MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 9|1 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.90, LOF (oe): 0.68, misssense (oe): 0.82, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000470026.6

Genbank transcript ID

NM_001407597 (by similarity)

UniProt / AlphaMissense peptide

BRCA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1863	CHAIN		lost
24	65	ZN_FING	RING-type	lost
25	27	STRAND		lost
49	52	HELIX		lost
54	58	STRAND		lost
62	64	STRAND		lost
66	68	STRAND		lost
70	72	TURN		lost
80	96	HELIX		lost
109	109	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
114	114	MOD_RES	Phosphoserine	lost
230	248	COMPBIAS	Polar residues	lost
230	270	REGION		lost
301	301	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
306	338	REGION		lost
324	338	COMPBIAS	Basic and acidic residues	lost
339	339	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
395	395	MOD_RES	Phosphoserine	lost
398	398	MOD_RES	Phosphoserine	lost
423	423	MOD_RES	Phosphoserine	lost
434	434	MOD_RES	Phosphoserine	lost
443	443	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
459	459	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
519	519	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
534	569	COMPBIAS	Polar residues	lost
534	570	REGION		lost
551	551	MOD_RES	Phosphoserine	lost
583	583	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	654	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	709	REGION		lost
676	698	COMPBIAS	Basic and acidic residues	lost
694	694	MOD_RES	Phosphoserine	lost
708	708	MOD_RES	Phosphoserine	lost
725	725	MOD_RES	Phosphoserine	lost
734	734	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
739	739	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
753	753	MOD_RES	Phosphoserine	lost
840	840	MOD_RES	Phosphoserine	lost
918	918	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
987	987	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
988	988	MOD_RES	Phosphoserine	lost
1009	1009	MOD_RES	Phosphoserine	lost
1079	1079	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
1143	1143	MOD_RES	Phosphoserine	lost
1181	1196	COMPBIAS	Polar residues	lost
1181	1216	REGION		lost
1189	1189	MOD_RES	Phosphoserine	lost
1191	1191	MOD_RES	Phosphoserine	lost
1211	1211	MOD_RES	Phosphoserine	lost
1217	1217	MOD_RES	Phosphoserine	lost
1218	1218	MOD_RES	Phosphoserine	lost
1280	1280	MOD_RES	Phosphoserine	lost
1322	1387	REGION		lost
1328	1328	MOD_RES	Phosphoserine	lost
1336	1336	MOD_RES	Phosphoserine	lost
1338	1353	COMPBIAS	Basic and acidic residues	lost
1342	1342	MOD_RES	Phosphoserine	lost
1354	1387	COMPBIAS	Polar residues	lost
1387	1387	MOD_RES	Phosphoserine	lost
1394	1394	MOD_RES	Phosphothreonine	lost
1397	1424	REGION	Interaction with PALB2	lost
1423	1423	MOD_RES	Phosphoserine	lost
1440	1468	COMPBIAS	Polar residues	lost
1440	1505	REGION		lost
1457	1457	MOD_RES	Phosphoserine	lost
1478	1492	COMPBIAS	Polar residues	lost
1524	1524	MOD_RES	Phosphoserine	lost
1542	1542	MOD_RES	Phosphoserine	lost
1565	1596	REGION		lost
1642	1736	DOMAIN	BRCT	lost
1651	1656	STRAND		lost
1659	1671	HELIX		lost
1675	1679	STRAND		lost
1686	1689	STRAND		lost
1695	1697	STRAND		lost
1701	1708	HELIX		lost
1712	1715	STRAND		lost
1717	1725	HELIX		lost
1731	1734	HELIX		lost
1740	1742	TURN		lost
1743	1745	STRAND		lost
1748	1754	HELIX		lost
1755	1757	TURN		lost
1756	1855	DOMAIN	BRCT	lost
1760	1763	TURN		lost
1765	1768	STRAND		lost
1770	1772	STRAND		lost
1773	1775	STRAND		lost
1777	1786	HELIX		lost
1790	1794	STRAND		lost
1795	1797	HELIX		lost
1801	1803	STRAND		lost
1806	1810	STRAND		lost
1812	1814	HELIX		lost
1817	1819	STRAND		lost
1820	1822	HELIX		lost
1824	1827	HELIX		lost
1828	1830	STRAND		lost
1832	1834	STRAND		lost
1835	1844	HELIX		lost
1851	1853	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK
CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG
TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT
DTAGYNAMEE SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI
TEETTHVVMK TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV
VNGRNHQGPK RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL
GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH
SHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5592 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1864 / 40

Position of stopcodon in wt / mu cDNA

5773 / 301

Position of start ATG in wt / mu cDNA

182 / 182

Last intron/exon boundary

5648

Theoretical NMD boundary in CDS

5416

Length of CDS

5592

Coding sequence (CDS) position

66 / 67

cDNA position

247 / 248

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.14 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_2_ENST00000489037

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.06, LOF (oe): 0.59, misssense (oe): 0.79, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000489037.2

Genbank transcript ID

NM_001408411 (by similarity), NM_001407655 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKSLQES TRFSQLVEEL
LKIICAFQLD TGLEYANSYN FAKKENNSPE HLKDEVSIIQ SMGYRNRAKR LLQSEPENPS
LQETSLSVQL SNLGTVRTLR TKQRIQPQKT SVYIELGSDS SEDTVNKATY CSVGDQELLQ
ITPQGTRDEI SLDSAKKAAC EFSETDVTNT EHHQPSNNDL NTTEKRAAER HPEKYQGSSV
SNLHVEPCGT NTHASSLQHE NSSLLLTKDR MNVEKAEFCN KSKQPGLARS QHNRWAGSKE
TCNDRRTPST EKKVDLNADP LCERKEWNKQ KLPCSENPRD TEDVPWITLN SSIQKVNEWF
SRSDELLGSD DSHDGESESN AKVADVLDVL NEVDEYSGSS EKIDLLASDP HEALICKSER
VHSKSVESNI EDKIFGKTYR KKASLPNLSH VTENLIIGAF VTEPQIIQER PLTNKLKRKR
RPTSGLHPED FIKKADLAVQ KTPEMINQGT NQTEQNGQVM NITNSGHENK TKGDSIQNEK
NPNPIESLEK ESAFKTKAEP ISSSISNMEL ELNIHNSKAP KKNRLRRKSS TRHIHALELV
VSRNLSPPNC TELQIDSCSS SEEIKKKKYN QMPVRHSRNL QLMEGKEPAT GAKKSNKPNE
QTSKRHDSDT FPELKLTNAP GSFTKCSNTS ELKEFVNPSL PREEKEEKLE TVKVSNNAED
PKDLMLSGER VLQTERSVES SSISLVPGTD YGTQESISLL EVSTLGKAKT EPNKCVSQCA
AFENPKGLIH GCSKDNRNDT EGFKYPLGHE VNHSRETSIE MEESELDAQY LQNTFKVSKR
QSFAPFSNPG NAEEECATFS AHSGSLKKQS PKVTFECEQK EENQGKNESN IKPVQTVNIT
AGFPVVGQKD KPVDNAKCSI KGGSRFCLSS QFRGNETGLI TPNKHGLLQN PYRIPPLFPI
KSFVKTKCKK NLLEENFEEH SMSPEREMGN ENIPSTVSTI SRNNIRENVF KEASSSNINE
VGSSTNEVGS SINEIGSSDE NIQAELGRNR GPKLNAMLRL GVLQPEVYKQ SLPGSNCKHP
EIKKQEYEEV VQTVNTDFSP YLISDNLEQP MGSSHASQVC SETPDDLLDD GEIKEDTSFA
ENDIKESSAV FSKSVQKGEL SRSPSPFTHT HLAQGYRRGA KKLESSEENL SSEDEELPCF
QHLLFGKVNN IPSQSTRHST VATECLSKNT EENLLSLKNS LNDCSNQVIL AKASQEHHLS
EETKCSASLF SSQCSELEDL TANTNTQDPF LIGSSKQMRH QSESQGVGLS DKELVSDDEE
RGTGLEENNQ EEQSMDSNLG EAASGCESET SVSEDCSGLS SQSDILTTQQ RDTMQHNLIK
LQQEMAELEA VLEQHGSQPS NSYPSIISDS SALEDLRNPE QSTSEKAVLT SQKSSEYPIS
QNPEGLSADK FEVSADSSTS KNKEPGVERS SPSKCPSLDD RWYMHSCSGS LQNRNYPSQE
ELIKVVDVEE QQLEESGPHD LTETSYLPRQ DLEGTPYLES GISLFSDDPE SDPSEDRAPE
SARVGNIPSS TSALKVPQLK VAESAQSPAA AHTTDTAGYN AMEESVSREK PELTASTERV
NKRMSMVVSG LTPEEFMLVY KFARKHHITL TNLITEETTH VVMKTDAEFV CERTLKYFLG
IAGGKWVVSY FWVTQSIKER KMLNEHDFEV RGDVVNGRNH QGPKRARESQ DRKIFRGLEI
CCYGPFTNMP TDQLEWMVQL CGASVVKELS SFTLGTGVHP IVVVQPDAWT EDNGFHAIGQ
MCEAPVVTRE WVLDSVALYQ CQELDTYLIP QIPHSHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5514 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1838 / 40

Position of stopcodon in wt / mu cDNA

5673 / 279

Position of start ATG in wt / mu cDNA

160 / 160

Last intron/exon boundary

5548

Theoretical NMD boundary in CDS

5338

Length of CDS

5514

Coding sequence (CDS) position

66 / 67

cDNA position

225 / 226

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.38 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_3_ENST00000473961

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.09, LOF (oe): 0.77, misssense (oe): 0.87, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000473961.6

Genbank transcript ID

NM_001407686 (by similarity), NM_001407875 (by similarity), NM_001407691 (by similarity), NM_001407685 (by similarity), NM_001407688 (by similarity), NM_001407940 (by similarity), NM_001407671 (by similarity), NM_001407649 (by similarity), NM_001408495 (by similarity), NM_001407958 (by similarity), NM_001407955 (by similarity), NM_001407689 (by similarity), NM_001407670 (by similarity), NM_001407954 (by similarity), NM_001407874 (by similarity), NM_001407672 (by similarity), NM_001407956 (by similarity), NM_001407690 (by similarity), NM_001407687 (by similarity), NM_001407941 (by similarity), NM_001407673 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLETS LSVQLSNLGT VRTLRTKQRI QPQKTSVYIE
LAACEFSETD VTNTEHHQPS NNDLNTTEKR AAERHPEKYQ GSSVSNLHVE PCGTNTHASS
LQHENSSLLL TKDRMNVEKA EFCNKSKQPG LARSQHNRWA GSKETCNDRR TPSTEKKVDL
NADPLCERKE WNKQKLPCSE NPRDTEDVPW ITLNSSIQKV NEWFSRSDEL LGSDDSHDGE
SESNAKVADV LDVLNEVDEY SGSSEKIDLL ASDPHEALIC KSERVHSKSV ESNIEDKIFG
KTYRKKASLP NLSHVTENLI IGAFVTEPQI IQERPLTNKL KRKRRPTSGL HPEDFIKKAD
LAVQKTPEMI NQGTNQTEQN GQVMNITNSG HENKTKGDSI QNEKNPNPIE SLEKESAFKT
KAEPISSSIS NMELELNIHN SKAPKKNRLR RKSSTRHIHA LELVVSRNLS PPNCTELQID
SCSSSEEIKK KKYNQMPVRH SRNLQLMEGK EPATGAKKSN KPNEQTSKRH DSDTFPELKL
TNAPGSFTKC SNTSELKEFV NPSLPREEKE EKLETVKVSN NAEDPKDLML SGERVLQTER
SVESSSISLV PGTDYGTQES ISLLEVSTLG KAKTEPNKCV SQCAAFENPK GLIHGCSKDN
RNDTEGFKYP LGHEVNHSRE TSIEMEESEL DAQYLQNTFK VSKRQSFAPF SNPGNAEEEC
ATFSAHSGSL KKQSPKVTFE CEQKEENQGK NESNIKPVQT VNITAGFPVV GQKDKPVDNA
KCSIKGGSRF CLSSQFRGNE TGLITPNKHG LLQNPYRIPP LFPIKSFVKT KCKKNLLEEN
FEEHSMSPER EMGNENIPST VSTISRNNIR ENVFKEASSS NINEVGSSTN EVGSSINEIG
SSDENIQAEL GRNRGPKLNA MLRLGVLQPE VYKQSLPGSN CKHPEIKKQE YEEVVQTVNT
DFSPYLISDN LEQPMGSSHA SQVCSETPDD LLDDGEIKED TSFAENDIKE SSAVFSKSVQ
KGELSRSPSP FTHTHLAQGY RRGAKKLESS EENLSSEDEE LPCFQHLLFG KVNNIPSQST
RHSTVATECL SKNTEENLLS LKNSLNDCSN QVILAKASQE HHLSEETKCS ASLFSSQCSE
LEDLTANTNT QDPFLIGSSK QMRHQSESQG VGLSDKELVS DDEERGTGLE ENNQEEQSMD
SNLGEAASGC ESETSVSEDC SGLSSQSDIL TTQQRDTMQH NLIKLQQEMA ELEAVLEQHG
SQPSNSYPSI ISDSSALEDL RNPEQSTSEK AVLTSQKSSE YPISQNPEGL SADKFEVSAD
SSTSKNKEPG VERSSPSKCP SLDDRWYMHS CSGSLQNRNY PSQEELIKVV DVEEQQLEES
GPHDLTETSY LPRQDLEGTP YLESGISLFS DDPESDPSED RAPESARVGN IPSSTSALKV
PQLKVAESAQ SPAAAHTTDT AGYNAMEESV SREKPELTAS TERVNKRMSM VVSGLTPEEF
MLVYKFARKH HITLTNLITE ETTHVVMKTD AEFVCERTLK YFLGIAGGKW VVSYFWVTQS
IKERKMLNEH DFEVRGDVVN GRNHQGPKRA RESQDRKIFR GLEICCYGPF TNMPTDQLEW
MVQLCGASVV KELSSFTLGT GVHPIVVVQP DAWTEDNGFH AIGQMCEAPV VTREWVLDSV
ALYQCQELDT YLIPQIPHSH Y*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5466 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1822 / 40

Position of stopcodon in wt / mu cDNA

5579 / 233

Position of start ATG in wt / mu cDNA

114 / 114

Last intron/exon boundary

5454

Theoretical NMD boundary in CDS

5290

Length of CDS

5466

Coding sequence (CDS) position

66 / 67

cDNA position

179 / 180

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.35 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_4_ENST00000477152

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.90, LOF (oe): 0.68, misssense (oe): 0.82, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000477152.6

Genbank transcript ID

NM_001407659 (by similarity), NM_001407662 (by similarity), NM_001407656 (by similarity), NM_001407657 (by similarity), NM_001407654 (by similarity), NM_001407660 (by similarity), NM_001407661 (by similarity), NM_001407663 (by similarity), NM_001407658 (by similarity), NM_001407653 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKSLQES TRFSQLVEEL
LKIICAFQLD TGLEYANSYN FAKKENNSPE HLKDEVSIIQ SMGYRNRAKR LLQSEPENPS
LQETSLSVQL SNLGTVRTLR TKQRIQPQKT SVYIELGSDS SEDTVNKATY CSVGDQELLQ
ITPQGTRDEI SLDSAKKAAC EFSETDVTNT EHHQPSNNDL NTTEKRAAER HPEKYQGSSV
SNLHVEPCGT NTHASSLQHE NSSLLLTKDR MNVEKAEFCN KSKQPGLARS QHNRWAGSKE
TCNDRRTPST EKKVDLNADP LCERKEWNKQ KLPCSENPRD TEDVPWITLN SSIQKVNEWF
SRSDELLGSD DSHDGESESN AKVADVLDVL NEVDEYSGSS EKIDLLASDP HEALICKSER
VHSKSVESNI EDKIFGKTYR KKASLPNLSH VTENLIIGAF VTEPQIIQER PLTNKLKRKR
RPTSGLHPED FIKKADLAVQ KTPEMINQGT NQTEQNGQVM NITNSGHENK TKGDSIQNEK
NPNPIESLEK ESAFKTKAEP ISSSISNMEL ELNIHNSKAP KKNRLRRKSS TRHIHALELV
VSRNLSPPNC TELQIDSCSS SEEIKKKKYN QMPVRHSRNL QLMEGKEPAT GAKKSNKPNE
QTSKRHDSDT FPELKLTNAP GSFTKCSNTS ELKEFVNPSL PREEKEEKLE TVKVSNNAED
PKDLMLSGER VLQTERSVES SSISLVPGTD YGTQESISLL EVSTLGKAKT EPNKCVSQCA
AFENPKGLIH GCSKDNRNDT EGFKYPLGHE VNHSRETSIE MEESELDAQY LQNTFKVSKR
QSFAPFSNPG NAEEECATFS AHSGSLKKQS PKVTFECEQK EENQGKNESN IKPVQTVNIT
AGFPVVGQKD KPVDNAKCSI KGGSRFCLSS QFRGNETGLI TPNKHGLLQN PYRIPPLFPI
KSFVKTKCKK NLLEENFEEH SMSPEREMGN ENIPSTVSTI SRNNIRENVF KEASSSNINE
VGSSTNEVGS SINEIGSSDE NIQAELGRNR GPKLNAMLRL GVLQPEVYKQ SLPGSNCKHP
EIKKQEYEEV VQTVNTDFSP YLISDNLEQP MGSSHASQVC SETPDDLLDD GEIKEDTSFA
ENDIKESSAV FSKSVQKGEL SRSPSPFTHT HLAQGYRRGA KKLESSEENL SSEDEELPCF
QHLLFGKVNN IPSQSTRHST VATECLSKNT EENLLSLKNS LNDCSNQVIL AKASQEHHLS
EETKCSASLF SSQCSELEDL TANTNTQDPF LIGSSKQMRH QSESQGVGLS DKELVSDDEE
RGTGLEENNQ EEQSMDSNLG EAASGCESET SVSEDCSGLS SQSDILTTQQ RDTMQHNLIK
LQQEMAELEA VLEQHGSQPS NSYPSIISDS SALEDLRNPE QSTSEKAVLT SQKSSEYPIS
QNPEGLSADK FEVSADSSTS KNKEPGVERS SPSKCPSLDD RWYMHSCSGS LQNRNYPSQE
ELIKVVDVEE QQLEESGPHD LTETSYLPRQ DLEGTPYLES GISLFSDDPE SDPSEDRAPE
SARVGNIPSS TSALKVPQLK VAESAQSPAA AHTTDTAGYN AMEESVSREK PELTASTERV
NKRMSMVVSG LTPEEFMLVY KFARKHHITL TNLITEETTH VVMKTDAEFV CERTLKYFLG
IAGGKWVVSY FWVTQSIKER KMLNEHDFEV RGDVVNGRNH QGPKRARESQ DRKIFRGLEI
CCYGPFTNMP TDQLEWMVQL CGASVVKELS SFTLGTGVHP IVVVQPDAWT EDNGFHAIGQ
MCEAPVVTRE WVLDSVALYQ CQELDTYLIP QIPHSHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5514 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1838 / 40

Position of stopcodon in wt / mu cDNA

5627 / 233

Position of start ATG in wt / mu cDNA

114 / 114

Last intron/exon boundary

5502

Theoretical NMD boundary in CDS

5338

Length of CDS

5514

Coding sequence (CDS) position

66 / 67

cDNA position

179 / 180

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.34 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_6_ENST00000461574

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.33, LOF (oe): 0.96, misssense (oe): 0.92, synonymous (oe): 0.79 ? (gnomAD)

Ensembl transcript ID

ENST00000461574.2

Genbank transcript ID

NM_001407618 (by similarity), NM_001407647 (by similarity), NM_001407635 (by similarity), NM_001407640 (by similarity), NM_001407617 (by similarity), NM_001407638 (by similarity), NM_001407622 (by similarity), NM_001407637 (by similarity), NM_001407641 (by similarity), NM_001407616 (by similarity), NM_001407636 (by similarity), NM_001407639 (by similarity), NM_001407620 (by similarity), NM_001407623 (by similarity), NM_001407633 (by similarity), NM_001407642 (by similarity), NM_001407619 (by similarity), NM_001407634 (by similarity), NM_001407621 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKVLTSQKSS EYPISQNPEG LSADKFEVSA DSSTSKNKEP GVERSSPSKC
PSLDDRWYMH SCSGSLQNRN YPSQEELIKV VDVEEQQLEE SGPHDLTETS YLPRQDLEGT
PYLESGISLF SDDPESDPSE DRAPESARVG NIPSSTSALK VPQLKVAESA QSPAAAHTTD
TAGYNAMEES VSREKPELTA STERVNKRMS MVVSGLTPEE FMLVYKFARK HHITLTNLIT
EETTHVVMKT DAEFVCERTL KYFLGIAGGK WVVSYFWVTQ SIKERKMLNE HDFEVRGDVV
NGRNHQGPKR ARESQDRKIF RGLEICCYGP FTNMPTDQLE WMVQLCGASV VKELSSFTLG
TGVHPIVVVQ PDAWTEDNGF HAIGQMCEAP VVTREWVLDS VALYQCQELD TYLIPQIPHS
HY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5589 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1863 / 40

Position of stopcodon in wt / mu cDNA

5708 / 239

Position of start ATG in wt / mu cDNA

120 / 120

Last intron/exon boundary

5583

Theoretical NMD boundary in CDS

5413

Length of CDS

5589

Coding sequence (CDS) position

66 / 67

cDNA position

185 / 186

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.34 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_9_ENST00000644379

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.98, LOF (oe): 0.80, misssense (oe): 0.88, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000644379.2

Genbank transcript ID

NM_001407587 (by similarity), NM_001408409 (by similarity), NM_001407971 (by similarity), NM_001407581 (by similarity), NM_001407582 (by similarity), NM_001407972 (by similarity), NM_001407970 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKDSHIHGQR NNSMFSKRPR EHISAVLTSQ KSSEYPISQN PEGLSADKFE
VSADSSTSKN KEPGVERSSP SKCPSLDDRW YMHSCSGSLQ NRNYPSQEEL IKVVDVEEQQ
LEESGPHDLT ETSYLPRQDL EGTPYLESGI SLFSDDPESD PSEDRAPESA RVGNIPSSTS
ALKVPQLKVA ESAQSPAAAH TTDTAGYNAM EESVSREKPE LTASTERVNK RMSMVVSGLT
PEEFMLVYKF ARKHHITLTN LITEETTHVV MKTDAEFVCE RTLKYFLGIA GGKWVVSYFW
VTQSIKERKM LNEHDFEVRG DVVNGRNHQG PKRARESQDR KIFRGLEICC YGPFTNMPTD
QLEWMVQLCG ASVVKELSSF TLGTGVHPIV VVQPDAWTED NGFHAIGQMC EAPVVTREWV
LDSVALYQCQ ELDTYLIPQI PHSHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5658 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1886 / 40

Position of stopcodon in wt / mu cDNA

5771 / 233

Position of start ATG in wt / mu cDNA

114 / 114

Last intron/exon boundary

5646

Theoretical NMD boundary in CDS

5482

Length of CDS

5658

Coding sequence (CDS) position

66 / 67

cDNA position

179 / 180

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.35 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_11_ENST00000700182

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000700182.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKSLQES TRFSQLVEEL
LKIICAFQLD TGLEYANSYN FAKKENNSPE HLKDEVSIIQ SMGYRNRAKR LLQSEPENPS
LETSLSVQLS NLGTVRTLRT KQRIQPQKTS VYIELGSDSS EDTVNKATYC SVGDQELLQI
TPQGTRDEIS LDSAKKAACE FSETDVTNTE HHQPSNNDLN TTEKRAAERH PEKYQGEAAS
GCESETSVSE DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP
SIISDSSALE DLRNPEQSTS EKVLTSQKSS EYPISQNPEG LSADKFEVSA DSSTSKNKEP
GVERSSPSKC PSLDDRWYMH SCSGSLQNRN YPSQEELIKV VDVEEQQLEE SGPHDLTETS
YLPRQDLEGT PYLESGISLF SDDPESDPSE DRAPESARVG NIPSSTSALK VPQLKVAESA
QSPAAAHTTD TAGYNAMEES VSREKPELTA STERVNKRMS MVVSGLTPEE FVSVSICISL
MTKT*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

1635 / 120

Position (AA) of stopcodon in wt / mu AA sequence

545 / 40

Position of stopcodon in wt / mu cDNA

1727 / 212

Position of start ATG in wt / mu cDNA

93 / 93

Last intron/exon boundary

1374

Theoretical NMD boundary in CDS

1231

Length of CDS

1635

Coding sequence (CDS) position

66 / 67

cDNA position

158 / 159

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.34 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_5_ENST00000352993

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.89, LOF (oe): 0.73, misssense (oe): 0.85, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000352993.7

Genbank transcript ID

NM_001408423 (by similarity), NM_001408420 (by similarity), NM_001408421 (by similarity), NM_001408431 (by similarity), NM_001408424 (by similarity), NM_001408419 (by similarity), NM_001408422 (by similarity), NM_001408418 (by similarity)

UniProt / AlphaMissense peptide

BRCA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1863	CHAIN		lost
24	65	ZN_FING	RING-type	lost
25	27	STRAND		lost
49	52	HELIX		lost
54	58	STRAND		lost
62	64	STRAND		lost
66	68	STRAND		lost
70	72	TURN		lost
80	96	HELIX		lost
109	109	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
114	114	MOD_RES	Phosphoserine	lost
230	248	COMPBIAS	Polar residues	lost
230	270	REGION		lost
301	301	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
306	338	REGION		lost
324	338	COMPBIAS	Basic and acidic residues	lost
339	339	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
395	395	MOD_RES	Phosphoserine	lost
398	398	MOD_RES	Phosphoserine	lost
423	423	MOD_RES	Phosphoserine	lost
434	434	MOD_RES	Phosphoserine	lost
443	443	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
459	459	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
519	519	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
534	569	COMPBIAS	Polar residues	lost
534	570	REGION		lost
551	551	MOD_RES	Phosphoserine	lost
583	583	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	654	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	709	REGION		lost
676	698	COMPBIAS	Basic and acidic residues	lost
694	694	MOD_RES	Phosphoserine	lost
708	708	MOD_RES	Phosphoserine	lost
725	725	MOD_RES	Phosphoserine	lost
734	734	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
739	739	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
753	753	MOD_RES	Phosphoserine	lost
840	840	MOD_RES	Phosphoserine	lost
918	918	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
987	987	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
988	988	MOD_RES	Phosphoserine	lost
1009	1009	MOD_RES	Phosphoserine	lost
1079	1079	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
1143	1143	MOD_RES	Phosphoserine	lost
1181	1196	COMPBIAS	Polar residues	lost
1181	1216	REGION		lost
1189	1189	MOD_RES	Phosphoserine	lost
1191	1191	MOD_RES	Phosphoserine	lost
1211	1211	MOD_RES	Phosphoserine	lost
1217	1217	MOD_RES	Phosphoserine	lost
1218	1218	MOD_RES	Phosphoserine	lost
1280	1280	MOD_RES	Phosphoserine	lost
1322	1387	REGION		lost
1328	1328	MOD_RES	Phosphoserine	lost
1336	1336	MOD_RES	Phosphoserine	lost
1338	1353	COMPBIAS	Basic and acidic residues	lost
1342	1342	MOD_RES	Phosphoserine	lost
1354	1387	COMPBIAS	Polar residues	lost
1387	1387	MOD_RES	Phosphoserine	lost
1394	1394	MOD_RES	Phosphothreonine	lost
1397	1424	REGION	Interaction with PALB2	lost
1423	1423	MOD_RES	Phosphoserine	lost
1440	1468	COMPBIAS	Polar residues	lost
1440	1505	REGION		lost
1457	1457	MOD_RES	Phosphoserine	lost
1478	1492	COMPBIAS	Polar residues	lost
1524	1524	MOD_RES	Phosphoserine	lost
1542	1542	MOD_RES	Phosphoserine	lost
1565	1596	REGION		lost
1642	1736	DOMAIN	BRCT	lost
1651	1656	STRAND		lost
1659	1671	HELIX		lost
1675	1679	STRAND		lost
1686	1689	STRAND		lost
1695	1697	STRAND		lost
1701	1708	HELIX		lost
1712	1715	STRAND		lost
1717	1725	HELIX		lost
1731	1734	HELIX		lost
1740	1742	TURN		lost
1743	1745	STRAND		lost
1748	1754	HELIX		lost
1755	1757	TURN		lost
1756	1855	DOMAIN	BRCT	lost
1760	1763	TURN		lost
1765	1768	STRAND		lost
1770	1772	STRAND		lost
1773	1775	STRAND		lost
1777	1786	HELIX		lost
1790	1794	STRAND		lost
1795	1797	HELIX		lost
1801	1803	STRAND		lost
1806	1810	STRAND		lost
1812	1814	HELIX		lost
1817	1819	STRAND		lost
1820	1822	HELIX		lost
1824	1827	HELIX		lost
1828	1830	STRAND		lost
1832	1834	STRAND		lost
1835	1844	HELIX		lost
1851	1853	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKGEAASGC ESETSVSEDC
SGLSSQSDIL TTQQRDTMQH NLIKLQQEMA ELEAVLEQHG SQPSNSYPSI ISDSSALEDL
RNPEQSTSEK AVLTSQKSSE YPISQNPEGL SADKFEVSAD SSTSKNKEPG VERSSPSKCP
SLDDRWYMHS CSGSLQNRNY PSQEELIKVV DVEEQQLEES GPHDLTETSY LPRQDLEGTP
YLESGISLFS DDPESDPSED RAPESARVGN IPSSTSALKV PQLKVAESAQ SPAAAHTTDT
AGYNAMEESV SREKPELTAS TERVNKRMSM VVSGLTPEEF MLVYKFARKH HITLTNLITE
ETTHVVMKTD AEFVCERTLK YFLGIAGGKW VVSYFWVTQS IKERKMLNEH DFEVRGDVVN
GRNHQGPKRA RESQDRKIFR GLEICCYGPF TNMPTDQLEW MVQLCGASVV KELSSFTLGT
GVHPIVVVQP DAWTEDNGFH AIGQMCEAPV VTREWVLDSV ALYQCQELDT YLIPQIPHSH
Y*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

2166 / 120

Position (AA) of stopcodon in wt / mu AA sequence

722 / 40

Position of stopcodon in wt / mu cDNA

2285 / 239

Position of start ATG in wt / mu cDNA

120 / 120

Last intron/exon boundary

2160

Theoretical NMD boundary in CDS

1990

Length of CDS

2166

Coding sequence (CDS) position

66 / 67

cDNA position

185 / 186

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.13 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_8_ENST00000468300

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.90, LOF (oe): 0.74, misssense (oe): 0.83, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000468300.5

Genbank transcript ID

NM_001407861 (by similarity), NM_001408472 (by similarity), NM_007299 (by similarity), NM_001407854 (by similarity), NM_001408473 (by similarity), NM_001407860 (by similarity), NM_001407858 (by similarity), NM_001407859 (by similarity)

UniProt / AlphaMissense peptide

BRCA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1863	CHAIN		lost
24	65	ZN_FING	RING-type	lost
25	27	STRAND		lost
49	52	HELIX		lost
54	58	STRAND		lost
62	64	STRAND		lost
66	68	STRAND		lost
70	72	TURN		lost
80	96	HELIX		lost
109	109	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
114	114	MOD_RES	Phosphoserine	lost
230	248	COMPBIAS	Polar residues	lost
230	270	REGION		lost
301	301	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
306	338	REGION		lost
324	338	COMPBIAS	Basic and acidic residues	lost
339	339	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
395	395	MOD_RES	Phosphoserine	lost
398	398	MOD_RES	Phosphoserine	lost
423	423	MOD_RES	Phosphoserine	lost
434	434	MOD_RES	Phosphoserine	lost
443	443	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
459	459	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
519	519	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
534	569	COMPBIAS	Polar residues	lost
534	570	REGION		lost
551	551	MOD_RES	Phosphoserine	lost
583	583	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	654	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	709	REGION		lost
676	698	COMPBIAS	Basic and acidic residues	lost
694	694	MOD_RES	Phosphoserine	lost
708	708	MOD_RES	Phosphoserine	lost
725	725	MOD_RES	Phosphoserine	lost
734	734	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
739	739	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
753	753	MOD_RES	Phosphoserine	lost
840	840	MOD_RES	Phosphoserine	lost
918	918	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
987	987	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
988	988	MOD_RES	Phosphoserine	lost
1009	1009	MOD_RES	Phosphoserine	lost
1079	1079	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
1143	1143	MOD_RES	Phosphoserine	lost
1181	1196	COMPBIAS	Polar residues	lost
1181	1216	REGION		lost
1189	1189	MOD_RES	Phosphoserine	lost
1191	1191	MOD_RES	Phosphoserine	lost
1211	1211	MOD_RES	Phosphoserine	lost
1217	1217	MOD_RES	Phosphoserine	lost
1218	1218	MOD_RES	Phosphoserine	lost
1280	1280	MOD_RES	Phosphoserine	lost
1322	1387	REGION		lost
1328	1328	MOD_RES	Phosphoserine	lost
1336	1336	MOD_RES	Phosphoserine	lost
1338	1353	COMPBIAS	Basic and acidic residues	lost
1342	1342	MOD_RES	Phosphoserine	lost
1354	1387	COMPBIAS	Polar residues	lost
1387	1387	MOD_RES	Phosphoserine	lost
1394	1394	MOD_RES	Phosphothreonine	lost
1397	1424	REGION	Interaction with PALB2	lost
1423	1423	MOD_RES	Phosphoserine	lost
1440	1468	COMPBIAS	Polar residues	lost
1440	1505	REGION		lost
1457	1457	MOD_RES	Phosphoserine	lost
1478	1492	COMPBIAS	Polar residues	lost
1524	1524	MOD_RES	Phosphoserine	lost
1542	1542	MOD_RES	Phosphoserine	lost
1565	1596	REGION		lost
1642	1736	DOMAIN	BRCT	lost
1651	1656	STRAND		lost
1659	1671	HELIX		lost
1675	1679	STRAND		lost
1686	1689	STRAND		lost
1695	1697	STRAND		lost
1701	1708	HELIX		lost
1712	1715	STRAND		lost
1717	1725	HELIX		lost
1731	1734	HELIX		lost
1740	1742	TURN		lost
1743	1745	STRAND		lost
1748	1754	HELIX		lost
1755	1757	TURN		lost
1756	1855	DOMAIN	BRCT	lost
1760	1763	TURN		lost
1765	1768	STRAND		lost
1770	1772	STRAND		lost
1773	1775	STRAND		lost
1777	1786	HELIX		lost
1790	1794	STRAND		lost
1795	1797	HELIX		lost
1801	1803	STRAND		lost
1806	1810	STRAND		lost
1812	1814	HELIX		lost
1817	1819	STRAND		lost
1820	1822	HELIX		lost
1824	1827	HELIX		lost
1828	1830	STRAND		lost
1832	1834	STRAND		lost
1835	1844	HELIX		lost
1851	1853	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGEAASGCE SETSVSEDCS GLSSQSDILT TQQRDTMQHN
LIKLQQEMAE LEAVLEQHGS QPSNSYPSII SDSSALEDLR NPEQSTSEKV LTSQKSSEYP
ISQNPEGLSA DKFEVSADSS TSKNKEPGVE RSSPSKCPSL DDRWYMHSCS GSLQNRNYPS
QEELIKVVDV EEQQLEESGP HDLTETSYLP RQDLEGTPYL ESGISLFSDD PESDPSEDRA
PESARVGNIP SSTSALKVPQ LKVAESAQSP AAAHTTDTAG YNAMEESVSR EKPELTASTE
RVNKRMSMVV SGLTPEEFML VYKFARKHHI TLTNLITEET THVVMKTDAE FVCERTLKYF
LGIAGGKWVV SYFWVTQSIK ERKMLNEHDF EVRGDVVNGR NHQGPKRARE SQDRKIFRGL
EICCYGPFTN MPTGCPPNCG CAARCLDRGQ WLPCNWADV*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

2100 / 120

Position (AA) of stopcodon in wt / mu AA sequence

700 / 40

Position of stopcodon in wt / mu cDNA

2294 / 314

Position of start ATG in wt / mu cDNA

195 / 195

Last intron/exon boundary

2275

Theoretical NMD boundary in CDS

2030

Length of CDS

2100

Coding sequence (CDS) position

66 / 67

cDNA position

260 / 261

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.13 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_12_ENST00000484087

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.91, LOF (oe): 0.70, misssense (oe): 0.85, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000484087.6

Genbank transcript ID

NM_001408436 (by similarity), NM_001408475 (by similarity), NM_001408509 (by similarity), NM_001408446 (by similarity), NM_001408435 (by similarity), NM_001408444 (by similarity), NM_001408438 (by similarity), NM_001408430 (by similarity), NM_001408448 (by similarity), NM_001408427 (by similarity), NM_001408476 (by similarity), NM_001408474 (by similarity), NM_001408445 (by similarity), NM_001408432 (by similarity), NM_001408443 (by similarity), NM_001408439 (by similarity), NM_001408425 (by similarity), NM_001408450 (by similarity), NM_001408434 (by similarity), NM_001408440 (by similarity), NM_001408428 (by similarity), NM_001408447 (by similarity), NM_001408433 (by similarity), NM_001408441 (by similarity), NM_001408437 (by similarity), NM_001408429 (by similarity), NM_001408442 (by similarity), NM_001408426 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELAACEFSET DVTNTEHHQP SNNDLNTTEK RAAERHPEKY QGEAASGCES ETSVSEDCSG
LSSQSDILTT QRDTMQHNLI KLQQEMAELE AVLEQHGSQP SNSYPSIISD SSALEDLRNP
EQSTSEKVLT SQKSSEYPIS QNPEGLSADK FEVSADSSTS KNKEPGVERS SPSKCPSLDD
RWYMHSCSGS LQNRNYPSQE ELIKVVDVEE QQLEESGPHD LTETSYLPRQ DLEGTPYLES
GISLFSDDPE SDPSEDRAPE SARVGNIPSS TSALKVPQLK VAESAQSPAA AHTTDTAGYN
AMEESVSREK PELTASTERV NKRMSMVVSG LTPEEFMLVY KFARKHHITL TNLITEETTH
VVMKTDAEFV CERTLKYFLG IAGGKWVVSY FWVTQSIKER KMLNEHDFEV RGDVVNGRNH
QGPKRARESQ DRKIFRGLEI CCYGPFTNMP TDQLEWMVQL CGASVVKELS SFTLGTGVHP
IVVVQPDAWT EDNGFHAIGQ MCEAPVVTRE WVLDSVALYQ CQELDTYLIP QIPHSHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

2154 / 120

Position (AA) of stopcodon in wt / mu AA sequence

718 / 40

Position of stopcodon in wt / mu cDNA

2246 / 212

Position of start ATG in wt / mu cDNA

93 / 93

Last intron/exon boundary

2121

Theoretical NMD boundary in CDS

1978

Length of CDS

2154

Coding sequence (CDS) position

66 / 67

cDNA position

158 / 159

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.34 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_10_ENST00000491747

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.88, LOF (oe): 0.73, misssense (oe): 0.85, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000491747.6

Genbank transcript ID

NM_001407980 (by similarity), NM_001407993 (by similarity), NM_001407976 (by similarity), NM_001408412 (by similarity), NM_001408408 (by similarity), NM_001408404 (by similarity), NM_001407990 (by similarity), NM_001407974 (by similarity), NM_001407973 (by similarity), NM_001408403 (by similarity), NM_001407983 (by similarity), NM_001407975 (by similarity), NM_001408406 (by similarity), NM_001407981 (by similarity), NM_007298 (by similarity), NM_001407978 (by similarity), NM_001408414 (by similarity), NM_001407979 (by similarity), NM_001407977 (by similarity), NM_001408415 (by similarity), NM_001407982 (by similarity)

UniProt / AlphaMissense peptide

BRCA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1863	CHAIN		lost
24	65	ZN_FING	RING-type	lost
25	27	STRAND		lost
49	52	HELIX		lost
54	58	STRAND		lost
62	64	STRAND		lost
66	68	STRAND		lost
70	72	TURN		lost
80	96	HELIX		lost
109	109	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
114	114	MOD_RES	Phosphoserine	lost
230	248	COMPBIAS	Polar residues	lost
230	270	REGION		lost
301	301	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
306	338	REGION		lost
324	338	COMPBIAS	Basic and acidic residues	lost
339	339	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
395	395	MOD_RES	Phosphoserine	lost
398	398	MOD_RES	Phosphoserine	lost
423	423	MOD_RES	Phosphoserine	lost
434	434	MOD_RES	Phosphoserine	lost
443	443	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
459	459	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
519	519	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
534	569	COMPBIAS	Polar residues	lost
534	570	REGION		lost
551	551	MOD_RES	Phosphoserine	lost
583	583	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	654	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	709	REGION		lost
676	698	COMPBIAS	Basic and acidic residues	lost
694	694	MOD_RES	Phosphoserine	lost
708	708	MOD_RES	Phosphoserine	lost
725	725	MOD_RES	Phosphoserine	lost
734	734	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
739	739	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
753	753	MOD_RES	Phosphoserine	lost
840	840	MOD_RES	Phosphoserine	lost
918	918	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
987	987	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
988	988	MOD_RES	Phosphoserine	lost
1009	1009	MOD_RES	Phosphoserine	lost
1079	1079	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
1143	1143	MOD_RES	Phosphoserine	lost
1181	1196	COMPBIAS	Polar residues	lost
1181	1216	REGION		lost
1189	1189	MOD_RES	Phosphoserine	lost
1191	1191	MOD_RES	Phosphoserine	lost
1211	1211	MOD_RES	Phosphoserine	lost
1217	1217	MOD_RES	Phosphoserine	lost
1218	1218	MOD_RES	Phosphoserine	lost
1280	1280	MOD_RES	Phosphoserine	lost
1322	1387	REGION		lost
1328	1328	MOD_RES	Phosphoserine	lost
1336	1336	MOD_RES	Phosphoserine	lost
1338	1353	COMPBIAS	Basic and acidic residues	lost
1342	1342	MOD_RES	Phosphoserine	lost
1354	1387	COMPBIAS	Polar residues	lost
1387	1387	MOD_RES	Phosphoserine	lost
1394	1394	MOD_RES	Phosphothreonine	lost
1397	1424	REGION	Interaction with PALB2	lost
1423	1423	MOD_RES	Phosphoserine	lost
1440	1468	COMPBIAS	Polar residues	lost
1440	1505	REGION		lost
1457	1457	MOD_RES	Phosphoserine	lost
1478	1492	COMPBIAS	Polar residues	lost
1524	1524	MOD_RES	Phosphoserine	lost
1542	1542	MOD_RES	Phosphoserine	lost
1565	1596	REGION		lost
1642	1736	DOMAIN	BRCT	lost
1651	1656	STRAND		lost
1659	1671	HELIX		lost
1675	1679	STRAND		lost
1686	1689	STRAND		lost
1695	1697	STRAND		lost
1701	1708	HELIX		lost
1712	1715	STRAND		lost
1717	1725	HELIX		lost
1731	1734	HELIX		lost
1740	1742	TURN		lost
1743	1745	STRAND		lost
1748	1754	HELIX		lost
1755	1757	TURN		lost
1756	1855	DOMAIN	BRCT	lost
1760	1763	TURN		lost
1765	1768	STRAND		lost
1770	1772	STRAND		lost
1773	1775	STRAND		lost
1777	1786	HELIX		lost
1790	1794	STRAND		lost
1795	1797	HELIX		lost
1801	1803	STRAND		lost
1806	1810	STRAND		lost
1812	1814	HELIX		lost
1817	1819	STRAND		lost
1820	1822	HELIX		lost
1824	1827	HELIX		lost
1828	1830	STRAND		lost
1832	1834	STRAND		lost
1835	1844	HELIX		lost
1851	1853	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGEAASGCE SETSVSEDCS GLSSQSDILT TQQRDTMQHN
LIKLQQEMAE LEAVLEQHGS QPSNSYPSII SDSSALEDLR NPEQSTSEKV LTSQKSSEYP
ISQNPEGLSA DKFEVSADSS TSKNKEPGVE RSSPSKCPSL DDRWYMHSCS GSLQNRNYPS
QEELIKVVDV EEQQLEESGP HDLTETSYLP RQDLEGTPYL ESGISLFSDD PESDPSEDRA
PESARVGNIP SSTSALKVPQ LKVAESAQSP AAAHTTDTAG YNAMEESVSR EKPELTASTE
RVNKRMSMVV SGLTPEEFML VYKFARKHHI TLTNLITEET THVVMKTDAE FVCERTLKYF
LGIAGGKWVV SYFWVTQSIK ERKMLNEHDF EVRGDVVNGR NHQGPKRARE SQDRKIFRGL
EICCYGPFTN MPTDQLEWMV QLCGASVVKE LSSFTLGTGV HPIVVVQPDA WTEDNGFHAI
GQMCEAPVVT REWVLDSVAL YQCQELDTYL IPQIPHSHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

2280 / 120

Position (AA) of stopcodon in wt / mu AA sequence

760 / 40

Position of stopcodon in wt / mu cDNA

2379 / 219

Position of start ATG in wt / mu cDNA

100 / 100

Last intron/exon boundary

2254

Theoretical NMD boundary in CDS

2104

Length of CDS

2280

Coding sequence (CDS) position

66 / 67

cDNA position

165 / 166

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.13 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_19_ENST00000713676

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000713676.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK
CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG
TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT
DTAGYNAMEE SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI
TEETTHVVMK TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV
VNGRNHQGPK RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL
GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH
SHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5592 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1864 / 40

Position of stopcodon in wt / mu cDNA

5665 / 193

Position of start ATG in wt / mu cDNA

74 / 74

Last intron/exon boundary

5540

Theoretical NMD boundary in CDS

5416

Length of CDS

5592

Coding sequence (CDS) position

66 / 67

cDNA position

139 / 140

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.39 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_20_ENST00000476777

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.96, LOF (oe): 0.65, misssense (oe): 0.82, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000476777.6

Genbank transcript ID

NM_001407632 (by similarity), NM_001407613 (by similarity), NM_001407644 (by similarity), NM_001407627 (by similarity), NM_001407614 (by similarity), NM_001407631 (by similarity), NM_001407645 (by similarity), NM_001407628 (by similarity), NM_001407611 (by similarity), NM_001407629 (by similarity), NM_001407612 (by similarity), NM_001407630 (by similarity), NM_001407615 (by similarity), NM_001407610 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLETS LSVQLSNLGT VRTLRTKQRI QPQKTSVYIE
LGSDSSEDTV NKATYCSVGD QELLQITPQG TRDEISLDSA KKAACEFSET DVTNTEHHQP
SNNDLNTTEK RAAERHPEKY QGSSVSNLHV EPCGTNTHAS SLQHENSSLL LTKDRMNVEK
AEFCNKSKQP GLARSQHNRW AGSKETCNDR RTPSTEKKVD LNADPLCERK EWNKQKLPCS
ENPRDTEDVP WITLNSSIQK VNEWFSRSDE LLGSDDSHDG ESESNAKVAD VLDVLNEVDE
YSGSSEKIDL LASDPHEALI CKSERVHSKS VESNIEDKIF GKTYRKKASL PNLSHVTENL
IIGAFVTEPQ IIQERPLTNK LKRKRRPTSG LHPEDFIKKA DLAVQKTPEM INQGTNQTEQ
NGQVMNITNS GHENKTKGDS IQNEKNPNPI ESLEKESAFK TKAEPISSSI SNMELELNIH
NSKAPKKNRL RRKSSTRHIH ALELVVSRNL SPPNCTELQI DSCSSSEEIK KKKYNQMPVR
HSRNLQLMEG KEPATGAKKS NKPNEQTSKR HDSDTFPELK LTNAPGSFTK CSNTSELKEF
VNPSLPREEK EEKLETVKVS NNAEDPKDLM LSGERVLQTE RSVESSSISL VPGTDYGTQE
SISLLEVSTL GKAKTEPNKC VSQCAAFENP KGLIHGCSKD NRNDTEGFKY PLGHEVNHSR
ETSIEMEESE LDAQYLQNTF KVSKRQSFAP FSNPGNAEEE CATFSAHSGS LKKQSPKVTF
ECEQKEENQG KNESNIKPVQ TVNITAGFPV VGQKDKPVDN AKCSIKGGSR FCLSSQFRGN
ETGLITPNKH GLLQNPYRIP PLFPIKSFVK TKCKKNLLEE NFEEHSMSPE REMGNENIPS
TVSTISRNNI RENVFKEASS SNINEVGSST NEVGSSINEI GSSDENIQAE LGRNRGPKLN
AMLRLGVLQP EVYKQSLPGS NCKHPEIKKQ EYEEVVQTVN TDFSPYLISD NLEQPMGSSH
ASQVCSETPD DLLDDGEIKE DTSFAENDIK ESSAVFSKSV QKGELSRSPS PFTHTHLAQG
YRRGAKKLES SEENLSSEDE ELPCFQHLLF GKVNNIPSQS TRHSTVATEC LSKNTEENLL
SLKNSLNDCS NQVILAKASQ EHHLSEETKC SASLFSSQCS ELEDLTANTN TQDPFLIGSS
KQMRHQSESQ GVGLSDKELV SDDEERGTGL EENNQEEQSM DSNLGEAASG CESETSVSED
CSGLSSQSDI LTTQRDTMQH NLIKLQQEMA ELEAVLEQHG SQPSNSYPSI ISDSSALEDL
RNPEQSTSEK AVLTSQKSSE YPISQNPEGL SADKFEVSAD SSTSKNKEPG VERSSPSKCP
SLDDRWYMHS CSGSLQNRNY PSQEELIKVV DVEEQQLEES GPHDLTETSY LPRQDLEGTP
YLESGISLFS DDPESDPSED RAPESARVGN IPSSTSALKV PQLKVAESAQ SPAAAHTTDT
AGYNAMEESV SREKPELTAS TERVNKRMSM VVSGLTPEEF MLVYKFARKH HITLTNLITE
ETTHVVMKTD AEFVCERTLK YFLGIAGGKW VVSYFWVTQS IKERKMLNEH DFEVRGDVVN
GRNHQGPKRA RESQDRKIFR GLEICCYGPF TNMPTDQLEW MVQLCGASVV KELSSFTLGT
GVHPIVVVQP DAWTEDNGFH AIGQMCEAPV VTREWVLDSV ALYQCQELDT YLIPQIPHSH
Y*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5586 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1862 / 40

Position of stopcodon in wt / mu cDNA

5695 / 229

Position of start ATG in wt / mu cDNA

110 / 110

Last intron/exon boundary

5570

Theoretical NMD boundary in CDS

5410

Length of CDS

5586

Coding sequence (CDS) position

66 / 67

cDNA position

175 / 176

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.37 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_17_ENST00000618469

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.79, LOF (oe): 0.56, misssense (oe): 0.91, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000618469.2

Genbank transcript ID

NM_001407596 (by similarity), NM_001407605 (by similarity), NM_001407625 (by similarity), NM_001407684 (by similarity), NM_001407594 (by similarity), NM_001407593 (by similarity)

UniProt / AlphaMissense peptide

BRCA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1863	CHAIN		lost
24	65	ZN_FING	RING-type	lost
25	27	STRAND		lost
49	52	HELIX		lost
54	58	STRAND		lost
62	64	STRAND		lost
66	68	STRAND		lost
70	72	TURN		lost
80	96	HELIX		lost
109	109	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
114	114	MOD_RES	Phosphoserine	lost
230	248	COMPBIAS	Polar residues	lost
230	270	REGION		lost
301	301	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
306	338	REGION		lost
324	338	COMPBIAS	Basic and acidic residues	lost
339	339	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
395	395	MOD_RES	Phosphoserine	lost
398	398	MOD_RES	Phosphoserine	lost
423	423	MOD_RES	Phosphoserine	lost
434	434	MOD_RES	Phosphoserine	lost
443	443	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
459	459	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
519	519	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
534	569	COMPBIAS	Polar residues	lost
534	570	REGION		lost
551	551	MOD_RES	Phosphoserine	lost
583	583	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	654	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	709	REGION		lost
676	698	COMPBIAS	Basic and acidic residues	lost
694	694	MOD_RES	Phosphoserine	lost
708	708	MOD_RES	Phosphoserine	lost
725	725	MOD_RES	Phosphoserine	lost
734	734	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
739	739	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
753	753	MOD_RES	Phosphoserine	lost
840	840	MOD_RES	Phosphoserine	lost
918	918	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
987	987	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
988	988	MOD_RES	Phosphoserine	lost
1009	1009	MOD_RES	Phosphoserine	lost
1079	1079	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
1143	1143	MOD_RES	Phosphoserine	lost
1181	1196	COMPBIAS	Polar residues	lost
1181	1216	REGION		lost
1189	1189	MOD_RES	Phosphoserine	lost
1191	1191	MOD_RES	Phosphoserine	lost
1211	1211	MOD_RES	Phosphoserine	lost
1217	1217	MOD_RES	Phosphoserine	lost
1218	1218	MOD_RES	Phosphoserine	lost
1280	1280	MOD_RES	Phosphoserine	lost
1322	1387	REGION		lost
1328	1328	MOD_RES	Phosphoserine	lost
1336	1336	MOD_RES	Phosphoserine	lost
1338	1353	COMPBIAS	Basic and acidic residues	lost
1342	1342	MOD_RES	Phosphoserine	lost
1354	1387	COMPBIAS	Polar residues	lost
1387	1387	MOD_RES	Phosphoserine	lost
1394	1394	MOD_RES	Phosphothreonine	lost
1397	1424	REGION	Interaction with PALB2	lost
1423	1423	MOD_RES	Phosphoserine	lost
1440	1468	COMPBIAS	Polar residues	lost
1440	1505	REGION		lost
1457	1457	MOD_RES	Phosphoserine	lost
1478	1492	COMPBIAS	Polar residues	lost
1524	1524	MOD_RES	Phosphoserine	lost
1542	1542	MOD_RES	Phosphoserine	lost
1565	1596	REGION		lost
1642	1736	DOMAIN	BRCT	lost
1651	1656	STRAND		lost
1659	1671	HELIX		lost
1675	1679	STRAND		lost
1686	1689	STRAND		lost
1695	1697	STRAND		lost
1701	1708	HELIX		lost
1712	1715	STRAND		lost
1717	1725	HELIX		lost
1731	1734	HELIX		lost
1740	1742	TURN		lost
1743	1745	STRAND		lost
1748	1754	HELIX		lost
1755	1757	TURN		lost
1756	1855	DOMAIN	BRCT	lost
1760	1763	TURN		lost
1765	1768	STRAND		lost
1770	1772	STRAND		lost
1773	1775	STRAND		lost
1777	1786	HELIX		lost
1790	1794	STRAND		lost
1795	1797	HELIX		lost
1801	1803	STRAND		lost
1806	1810	STRAND		lost
1812	1814	HELIX		lost
1817	1819	STRAND		lost
1820	1822	HELIX		lost
1824	1827	HELIX		lost
1828	1830	STRAND		lost
1832	1834	STRAND		lost
1835	1844	HELIX		lost
1851	1853	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK
CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG
TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT
DTAGYNAMEE SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI
TEETTHVVMK TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV
VNGRNHQGPK RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL
GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH
SHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5592 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1864 / 40

Position of stopcodon in wt / mu cDNA

6239 / 767

Position of start ATG in wt / mu cDNA

648 / 648

Last intron/exon boundary

6114

Theoretical NMD boundary in CDS

5416

Length of CDS

5592

Coding sequence (CDS) position

66 / 67

cDNA position

713 / 714

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.14 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_21_ENST00000634433

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.83, LOF (oe): 0.63, misssense (oe): 0.84, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000634433.2

Genbank transcript ID

NM_001407665 (by similarity), NM_001408494 (by similarity), NM_001407682 (by similarity), NM_001407676 (by similarity), NM_001407863 (by similarity), NM_001407679 (by similarity), NM_001407938 (by similarity), NM_001407667 (by similarity), NM_001407668 (by similarity), NM_001407862 (by similarity), NM_001407681 (by similarity), NM_001407675 (by similarity), NM_001407680 (by similarity), NM_001407664 (by similarity), NM_001407648 (by similarity), NM_001407678 (by similarity), NM_001407666 (by similarity), NM_001407683 (by similarity), NM_001407674 (by similarity), NM_001407939 (by similarity), NM_001407677 (by similarity), NM_001407919 (by similarity), NM_001407937 (by similarity), NM_001407669 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELAACEFSET DVTNTEHHQP SNNDLNTTEK RAAERHPEKY QGSSVSNLHV EPCGTNTHAS
SLQHENSSLL LTKDRMNVEK AEFCNKSKQP GLARSQHNRW AGSKETCNDR RTPSTEKKVD
LNADPLCERK EWNKQKLPCS ENPRDTEDVP WITLNSSIQK VNEWFSRSDE LLGSDDSHDG
ESESNAKVAD VLDVLNEVDE YSGSSEKIDL LASDPHEALI CKSERVHSKS VESNIEDKIF
GKTYRKKASL PNLSHVTENL IIGAFVTEPQ IIQERPLTNK LKRKRRPTSG LHPEDFIKKA
DLAVQKTPEM INQGTNQTEQ NGQVMNITNS GHENKTKGDS IQNEKNPNPI ESLEKESAFK
TKAEPISSSI SNMELELNIH NSKAPKKNRL RRKSSTRHIH ALELVVSRNL SPPNCTELQI
DSCSSSEEIK KKKYNQMPVR HSRNLQLMEG KEPATGAKKS NKPNEQTSKR HDSDTFPELK
LTNAPGSFTK CSNTSELKEF VNPSLPREEK EEKLETVKVS NNAEDPKDLM LSGERVLQTE
RSVESSSISL VPGTDYGTQE SISLLEVSTL GKAKTEPNKC VSQCAAFENP KGLIHGCSKD
NRNDTEGFKY PLGHEVNHSR ETSIEMEESE LDAQYLQNTF KVSKRQSFAP FSNPGNAEEE
CATFSAHSGS LKKQSPKVTF ECEQKEENQG KNESNIKPVQ TVNITAGFPV VGQKDKPVDN
AKCSIKGGSR FCLSSQFRGN ETGLITPNKH GLLQNPYRIP PLFPIKSFVK TKCKKNLLEE
NFEEHSMSPE REMGNENIPS TVSTISRNNI RENVFKEASS SNINEVGSST NEVGSSINEI
GSSDENIQAE LGRNRGPKLN AMLRLGVLQP EVYKQSLPGS NCKHPEIKKQ EYEEVVQTVN
TDFSPYLISD NLEQPMGSSH ASQVCSETPD DLLDDGEIKE DTSFAENDIK ESSAVFSKSV
QKGELSRSPS PFTHTHLAQG YRRGAKKLES SEENLSSEDE ELPCFQHLLF GKVNNIPSQS
TRHSTVATEC LSKNTEENLL SLKNSLNDCS NQVILAKASQ EHHLSEETKC SASLFSSQCS
ELEDLTANTN TQDPFLIGSS KQMRHQSESQ GVGLSDKELV SDDEERGTGL EENNQEEQSM
DSNLGEAASG CESETSVSED CSGLSSQSDI LTTQQRDTMQ HNLIKLQQEM AELEAVLEQH
GSQPSNSYPS IISDSSALED LRNPEQSTSE KAVLTSQKSS EYPISQNPEG LSADKFEVSA
DSSTSKNKEP GVERSSPSKC PSLDDRWYMH SCSGSLQNRN YPSQEELIKV VDVEEQQLEE
SGPHDLTETS YLPRQDLEGT PYLESGISLF SDDPESDPSE DRAPESARVG NIPSSTSALK
VPQLKVAESA QSPAAAHTTD TAGYNAMEES VSREKPELTA STERVNKRMS MVVSGLTPEE
FMLVYKFARK HHITLTNLIT EETTHVVMKT DAEFVCERTL KYFLGIAGGK WVVSYFWVTQ
SIKERKMLNE HDFEVRGDVV NGRNHQGPKR ARESQDRKIF RGLEICCYGP FTNMPTDQLE
WMVQLCGASV VKELSSFTLG TGVHPIVVVQ PDAWTEDNGF HAIGQMCEAP VVTREWVLDS
VALYQCQELD TYLIPQIPHS HY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5469 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1823 / 40

Position of stopcodon in wt / mu cDNA

5608 / 259

Position of start ATG in wt / mu cDNA

140 / 140

Last intron/exon boundary

5483

Theoretical NMD boundary in CDS

5293

Length of CDS

5469

Coding sequence (CDS) position

66 / 67

cDNA position

205 / 206

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.14 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_23_ENST00000471181

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.89, LOF (oe): 0.77, misssense (oe): 0.87, synonymous (oe): 0.82 ? (gnomAD)

Ensembl transcript ID

ENST00000471181.7

Genbank transcript ID

NM_001407585 (by similarity), NM_001407590 (by similarity), NM_007300 (by similarity), NM_001407591 (by similarity), NM_001407583 (by similarity)

UniProt / AlphaMissense peptide

BRCA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1863	CHAIN		lost
24	65	ZN_FING	RING-type	lost
25	27	STRAND		lost
49	52	HELIX		lost
54	58	STRAND		lost
62	64	STRAND		lost
66	68	STRAND		lost
70	72	TURN		lost
80	96	HELIX		lost
109	109	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
114	114	MOD_RES	Phosphoserine	lost
230	248	COMPBIAS	Polar residues	lost
230	270	REGION		lost
301	301	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
306	338	REGION		lost
324	338	COMPBIAS	Basic and acidic residues	lost
339	339	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
395	395	MOD_RES	Phosphoserine	lost
398	398	MOD_RES	Phosphoserine	lost
423	423	MOD_RES	Phosphoserine	lost
434	434	MOD_RES	Phosphoserine	lost
443	443	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
459	459	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
519	519	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
534	569	COMPBIAS	Polar residues	lost
534	570	REGION		lost
551	551	MOD_RES	Phosphoserine	lost
583	583	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	654	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	709	REGION		lost
676	698	COMPBIAS	Basic and acidic residues	lost
694	694	MOD_RES	Phosphoserine	lost
708	708	MOD_RES	Phosphoserine	lost
725	725	MOD_RES	Phosphoserine	lost
734	734	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
739	739	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
753	753	MOD_RES	Phosphoserine	lost
840	840	MOD_RES	Phosphoserine	lost
918	918	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
987	987	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
988	988	MOD_RES	Phosphoserine	lost
1009	1009	MOD_RES	Phosphoserine	lost
1079	1079	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
1143	1143	MOD_RES	Phosphoserine	lost
1181	1196	COMPBIAS	Polar residues	lost
1181	1216	REGION		lost
1189	1189	MOD_RES	Phosphoserine	lost
1191	1191	MOD_RES	Phosphoserine	lost
1211	1211	MOD_RES	Phosphoserine	lost
1217	1217	MOD_RES	Phosphoserine	lost
1218	1218	MOD_RES	Phosphoserine	lost
1280	1280	MOD_RES	Phosphoserine	lost
1322	1387	REGION		lost
1328	1328	MOD_RES	Phosphoserine	lost
1336	1336	MOD_RES	Phosphoserine	lost
1338	1353	COMPBIAS	Basic and acidic residues	lost
1342	1342	MOD_RES	Phosphoserine	lost
1354	1387	COMPBIAS	Polar residues	lost
1387	1387	MOD_RES	Phosphoserine	lost
1394	1394	MOD_RES	Phosphothreonine	lost
1397	1424	REGION	Interaction with PALB2	lost
1423	1423	MOD_RES	Phosphoserine	lost
1440	1468	COMPBIAS	Polar residues	lost
1440	1505	REGION		lost
1457	1457	MOD_RES	Phosphoserine	lost
1478	1492	COMPBIAS	Polar residues	lost
1524	1524	MOD_RES	Phosphoserine	lost
1542	1542	MOD_RES	Phosphoserine	lost
1565	1596	REGION		lost
1642	1736	DOMAIN	BRCT	lost
1651	1656	STRAND		lost
1659	1671	HELIX		lost
1675	1679	STRAND		lost
1686	1689	STRAND		lost
1695	1697	STRAND		lost
1701	1708	HELIX		lost
1712	1715	STRAND		lost
1717	1725	HELIX		lost
1731	1734	HELIX		lost
1740	1742	TURN		lost
1743	1745	STRAND		lost
1748	1754	HELIX		lost
1755	1757	TURN		lost
1756	1855	DOMAIN	BRCT	lost
1760	1763	TURN		lost
1765	1768	STRAND		lost
1770	1772	STRAND		lost
1773	1775	STRAND		lost
1777	1786	HELIX		lost
1790	1794	STRAND		lost
1795	1797	HELIX		lost
1801	1803	STRAND		lost
1806	1810	STRAND		lost
1812	1814	HELIX		lost
1817	1819	STRAND		lost
1820	1822	HELIX		lost
1824	1827	HELIX		lost
1828	1830	STRAND		lost
1832	1834	STRAND		lost
1835	1844	HELIX		lost
1851	1853	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKDSHIHGQR NNSMFSKRPR EHISVLTSQK SSEYPISQNP EGLSADKFEV
SADSSTSKNK EPGVERSSPS KCPSLDDRWY MHSCSGSLQN RNYPSQEELI KVVDVEEQQL
EESGPHDLTE TSYLPRQDLE GTPYLESGIS LFSDDPESDP SEDRAPESAR VGNIPSSTSA
LKVPQLKVAE SAQSPAAAHT TDTAGYNAME ESVSREKPEL TASTERVNKR MSMVVSGLTP
EEFMLVYKFA RKHHITLTNL ITEETTHVVM KTDAEFVCER TLKYFLGIAG GKWVVSYFWV
TQSIKERKML NEHDFEVRGD VVNGRNHQGP KRARESQDRK IFRGLEICCY GPFTNMPTDQ
LEWMVQLCGA SVVKELSSFT LGTGVHPIVV VQPDAWTEDN GFHAIGQMCE APVVTREWVL
DSVALYQCQE LDTYLIPQIP HSHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5655 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1885 / 40

Position of stopcodon in wt / mu cDNA

5887 / 352

Position of start ATG in wt / mu cDNA

233 / 233

Last intron/exon boundary

5762

Theoretical NMD boundary in CDS

5479

Length of CDS

5655

Coding sequence (CDS) position

66 / 67

cDNA position

298 / 299

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.37 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_27_ENST00000478531

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.86, LOF (oe): 0.69, misssense (oe): 0.84, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000478531.6

Genbank transcript ID

NM_001408397 (by similarity), NM_001408451 (by similarity), NM_001408401 (by similarity), NM_001408396 (by similarity), NM_001407985 (by similarity), NM_001407991 (by similarity), NM_001408413 (by similarity), NM_001408407 (by similarity), NM_001408402 (by similarity), NM_001408399 (by similarity), NM_001407984 (by similarity), NM_001408416 (by similarity), NM_001408398 (by similarity), NM_001407992 (by similarity), NM_001408400 (by similarity), NM_001408392 (by similarity), NM_001407986 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLETS LSVQLSNLGT VRTLRTKQRI QPQKTSVYIE
LGSDSSEDTV NKATYCSVGD QELLQITPQG TRDEISLDSA KKAACEFSET DVTNTEHHQP
SNNDLNTTEK RAAERHPEKY QGEAASGCES ETSVSEDCSG LSSQSDILTT QQRDTMQHNL
IKLQQEMAEL EAVLEQHGSQ PSNSYPSIIS DSSALEDLRN PEQSTSEKAV LTSQKSSEYP
ISQNPEGLSA DKFEVSADSS TSKNKEPGVE RSSPSKCPSL DDRWYMHSCS GSLQNRNYPS
QEELIKVVDV EEQQLEESGP HDLTETSYLP RQDLEGTPYL ESGISLFSDD PESDPSEDRA
PESARVGNIP SSTSALKVPQ LKVAESAQSP AAAHTTDTAG YNAMEESVSR EKPELTASTE
RVNKRMSMVV SGLTPEEFML VYKFARKHHI TLTNLITEET THVVMKTDAE FVCERTLKYF
LGIAGGKWVV SYFWVTQSIK ERKMLNEHDF EVRGDVVNGR NHQGPKRARE SQDRKIFRGL
EICCYGPFTN MPTDQLEWMV QLCGASVVKE LSSFTLGTGV HPIVVVQPDA WTEDNGFHAI
GQMCEAPVVT REWVLDSVAL YQCQELDTYL IPQIPHSHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

2280 / 120

Position (AA) of stopcodon in wt / mu AA sequence

760 / 40

Position of stopcodon in wt / mu cDNA

2382 / 222

Position of start ATG in wt / mu cDNA

103 / 103

Last intron/exon boundary

2257

Theoretical NMD boundary in CDS

2104

Length of CDS

2280

Coding sequence (CDS) position

66 / 67

cDNA position

168 / 169

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.36 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_24_ENST00000494123

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.95, LOF (oe): 0.71, misssense (oe): 0.83, synonymous (oe): 0.87 ? (gnomAD)

Ensembl transcript ID

ENST00000494123.6

Genbank transcript ID

UniProt / AlphaMissense peptide

BRCA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	1863	CHAIN		lost
24	65	ZN_FING	RING-type	lost
25	27	STRAND		lost
49	52	HELIX		lost
54	58	STRAND		lost
62	64	STRAND		lost
66	68	STRAND		lost
70	72	TURN		lost
80	96	HELIX		lost
109	109	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
114	114	MOD_RES	Phosphoserine	lost
230	248	COMPBIAS	Polar residues	lost
230	270	REGION		lost
301	301	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
306	338	REGION		lost
324	338	COMPBIAS	Basic and acidic residues	lost
339	339	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
395	395	MOD_RES	Phosphoserine	lost
398	398	MOD_RES	Phosphoserine	lost
423	423	MOD_RES	Phosphoserine	lost
434	434	MOD_RES	Phosphoserine	lost
443	443	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
459	459	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
519	519	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
534	569	COMPBIAS	Polar residues	lost
534	570	REGION		lost
551	551	MOD_RES	Phosphoserine	lost
583	583	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	654	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	709	REGION		lost
676	698	COMPBIAS	Basic and acidic residues	lost
694	694	MOD_RES	Phosphoserine	lost
708	708	MOD_RES	Phosphoserine	lost
725	725	MOD_RES	Phosphoserine	lost
734	734	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
739	739	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
753	753	MOD_RES	Phosphoserine	lost
840	840	MOD_RES	Phosphoserine	lost
918	918	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
987	987	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
988	988	MOD_RES	Phosphoserine	lost
1009	1009	MOD_RES	Phosphoserine	lost
1079	1079	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
1143	1143	MOD_RES	Phosphoserine	lost
1181	1196	COMPBIAS	Polar residues	lost
1181	1216	REGION		lost
1189	1189	MOD_RES	Phosphoserine	lost
1191	1191	MOD_RES	Phosphoserine	lost
1211	1211	MOD_RES	Phosphoserine	lost
1217	1217	MOD_RES	Phosphoserine	lost
1218	1218	MOD_RES	Phosphoserine	lost
1280	1280	MOD_RES	Phosphoserine	lost
1322	1387	REGION		lost
1328	1328	MOD_RES	Phosphoserine	lost
1336	1336	MOD_RES	Phosphoserine	lost
1338	1353	COMPBIAS	Basic and acidic residues	lost
1342	1342	MOD_RES	Phosphoserine	lost
1354	1387	COMPBIAS	Polar residues	lost
1387	1387	MOD_RES	Phosphoserine	lost
1394	1394	MOD_RES	Phosphothreonine	lost
1397	1424	REGION	Interaction with PALB2	lost
1423	1423	MOD_RES	Phosphoserine	lost
1440	1468	COMPBIAS	Polar residues	lost
1440	1505	REGION		lost
1457	1457	MOD_RES	Phosphoserine	lost
1478	1492	COMPBIAS	Polar residues	lost
1524	1524	MOD_RES	Phosphoserine	lost
1542	1542	MOD_RES	Phosphoserine	lost
1565	1596	REGION		lost
1642	1736	DOMAIN	BRCT	lost
1651	1656	STRAND		lost
1659	1671	HELIX		lost
1675	1679	STRAND		lost
1686	1689	STRAND		lost
1695	1697	STRAND		lost
1701	1708	HELIX		lost
1712	1715	STRAND		lost
1717	1725	HELIX		lost
1731	1734	HELIX		lost
1740	1742	TURN		lost
1743	1745	STRAND		lost
1748	1754	HELIX		lost
1755	1757	TURN		lost
1756	1855	DOMAIN	BRCT	lost
1760	1763	TURN		lost
1765	1768	STRAND		lost
1770	1772	STRAND		lost
1773	1775	STRAND		lost
1777	1786	HELIX		lost
1790	1794	STRAND		lost
1795	1797	HELIX		lost
1801	1803	STRAND		lost
1806	1810	STRAND		lost
1812	1814	HELIX		lost
1817	1819	STRAND		lost
1820	1822	HELIX		lost
1824	1827	HELIX		lost
1828	1830	STRAND		lost
1832	1834	STRAND		lost
1835	1844	HELIX		lost
1851	1853	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK
CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG
TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT
DTAGYNAMEE SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI
TEETTHVVMK TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV
VNGRNHQGPK RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL
GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH
SHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5592 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1864 / 40

Position of stopcodon in wt / mu cDNA

5785 / 313

Position of start ATG in wt / mu cDNA

194 / 194

Last intron/exon boundary

5660

Theoretical NMD boundary in CDS

5416

Length of CDS

5592

Coding sequence (CDS) position

66 / 67

cDNA position

259 / 260

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.39 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_26_ENST00000357654

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 37691 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.89, LOF (oe): 0.77, misssense (oe): 0.86, synonymous (oe): 0.82 ? (gnomAD)

Ensembl transcript ID

ENST00000357654.9

Genbank transcript ID

NM_007294 (exact from MANE), NM_001407603 (by similarity), NM_001407969 (by similarity), NM_001407968 (by similarity), NM_001407626 (by similarity), NM_001407652 (by similarity), NM_001407598 (by similarity), NM_001407602 (by similarity), NM_001407646 (by similarity), NM_001407624 (by similarity)

UniProt / AlphaMissense peptide

BRCA1_HUMAN | AlphaMissense: transcript, gene

Variant type

Insertion

Gene region

CDS

DNA changes

c.66_67insA
g.46215_46216insA

AA changes

E23Rfs*18

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V	S	T	K	C	D	H	I	F	C	K	F	C	M	L	K	L	L	N	Q	K	K	G	P	S	Q	C	P	L	C	K	N	D	I	T	K	R	S	L	Q	E	S	T	R	F	S	Q	L	V	E	E	L	L	K	I	I	C	A	F	Q	L	D	T	G	L	E	Y	A	N	S	Y	N	F	A	K	K	E	N	N	S	P	E	H	L	K	D	E	V	S	I	I	Q	S	M	G	Y	R	N	R	A	K	R
mutated	no alignment	n/a
Ptroglodytes	all identical	23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V	S	T	K	C	D	H	I	F	C	K	F	C	M	L	K	L	L	N	Q	K	K	G	P	S	Q	C	P	L	C	K	N	D	I	T	K	R	S	L	Q	E	S	T	R	F	S	Q	L	V	E	E	L	L	K	I	I	C	A	F	Q	L	D	T	G	L	E	Y	A	N	S	Y	N	F	A	K	K	E	N	N	S	P	E	H	L	K	D
Mmulatta	partly conserved	23	Q	N	V	I	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V	S	T	K	C	D	H	I	F	C	R	F	C	M	L	K	L	L	N	Q	K	K	G	P	S	Q	C	P	L	C	K	N	D	I	T	K	R	S	L	Q	E	S	T	R	F	S	Q	L	V	E	E	L	L	K	I	I	H	A	F	Q	L	D	T	G	L	Q	F	A	N	S	Y	N	F	A	K	K	E	N	H	S	P	E	H	L	K	D
Fcatus	partly conserved	23	Q	S	V	L	N	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V	S	T	K	C	D	H	I	F	C	K	F	C	M	L	K	L	L	N	Q	R	K	G	P	S	Q	C	P	L	C	K	N	D	I	T	K	R	S	L	Q	E	S	T	R	F	S	Q	L	V	E	E	L	L	N	I	I	H	A	F	E	L	D	T	G	L	Q	F	A	N	S	Y	N	F	S	K	K	E	N	N	S	P	E	H	L	K	E
Mmusculus	partly conserved	23	Q	N	V	L	H	A	M	Q	K	I	L	E	C	P	I	C	L	E	L	I	K	E	P	V	S	T	K	C	D	H	I	F	C	K	F	C	M	L	K	L	L	N	Q	K	K	G	P	S	Q	C	P	L	C	K	N	E	I	T	K	R	S	L	Q	G	S	T	R	F	S	Q	L	A	E	E	L	L	R	I	M	A	A	F	E	L	D	T	G	M	Q	L	T	N	G	F	S	F	S	K	K	R	N	N	S	C	E	R	L	N	E
Ggallus	no alignment	n/a
Trubripes	partly conserved	80	K	K	G	I	S	V	L	W	E	S	L	Q	C	P	I	C	L	D	I	L	T	A	P	V	S	T	K	C	D	H	Q	F	C	K	F	C	I	S	K	L	LS	N	T	K	Q	N	K	A	N	C	P	V	C	K	S	K	I	T	K	R	S	L	Q	E	S	P	G	F	Q	R	L	V	T	G	L	Q	G	M	I	L	A	Y	E	N	D	T	G	T	N	Y
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	partly conserved	23	-	-	-	V	A	R	L	Q	K	E	L	K	C	G	I	C	C	S	T	Y	K	D	P	I	L	S	T	C	F	H	I	F	C	R	S	C	-	I	N	A	C	F	E	R	K	R	K	V	Q	C	P	I	C	R	S	V	L	D	K	R	S	C	R	D	T	Y	Q	I	T	M	A	V	Q	N	Y	L	K	L	S	E	A	F	K	K	D	-	-	I	E	N	M	N	T	F	K	S	L	P	P	E	K	M	F	M	E	S	Q	M	P	L	D	I	T
Xtropicalis	partly conserved	81	R	N	V	I	S	V	M	Q	K	N	L	E	C	P	I	C	L	E	L	M	K	E	P	V	A	T	K	C	D	H	I	F	C	K	F	C	M	L	Q	L	L	S	K	K	K	K	E	NV	P	C	P	L	C	K	T	E	V	T	R	R	S	L	Q	E	S	H	R	F	K	L	L	V	E	G	L	L	K	I	I	K	A	F	E	L	D	S	G	C	K	F	-	-	-	-	-	F	P	S	Q	E	N	T	V	S	G	F	E	S

Protein features

Start (aa)	End (aa)	Feature	Details
1	1863	CHAIN		lost
24	65	ZN_FING	RING-type	lost
25	27	STRAND		lost
49	52	HELIX		lost
54	58	STRAND		lost
62	64	STRAND		lost
66	68	STRAND		lost
70	72	TURN		lost
80	96	HELIX		lost
109	109	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
114	114	MOD_RES	Phosphoserine	lost
230	248	COMPBIAS	Polar residues	lost
230	270	REGION		lost
301	301	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
306	338	REGION		lost
324	338	COMPBIAS	Basic and acidic residues	lost
339	339	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
395	395	MOD_RES	Phosphoserine	lost
398	398	MOD_RES	Phosphoserine	lost
423	423	MOD_RES	Phosphoserine	lost
434	434	MOD_RES	Phosphoserine	lost
443	443	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
459	459	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
519	519	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
534	569	COMPBIAS	Polar residues	lost
534	570	REGION		lost
551	551	MOD_RES	Phosphoserine	lost
583	583	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	654	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
654	709	REGION		lost
676	698	COMPBIAS	Basic and acidic residues	lost
694	694	MOD_RES	Phosphoserine	lost
708	708	MOD_RES	Phosphoserine	lost
725	725	MOD_RES	Phosphoserine	lost
734	734	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
739	739	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
753	753	MOD_RES	Phosphoserine	lost
840	840	MOD_RES	Phosphoserine	lost
918	918	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
987	987	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
988	988	MOD_RES	Phosphoserine	lost
1009	1009	MOD_RES	Phosphoserine	lost
1079	1079	CROSSLNK	Glycyl lysine isopeptide (Lys-Gly)	lost
1143	1143	MOD_RES	Phosphoserine	lost
1181	1196	COMPBIAS	Polar residues	lost
1181	1216	REGION		lost
1189	1189	MOD_RES	Phosphoserine	lost
1191	1191	MOD_RES	Phosphoserine	lost
1211	1211	MOD_RES	Phosphoserine	lost
1217	1217	MOD_RES	Phosphoserine	lost
1218	1218	MOD_RES	Phosphoserine	lost
1280	1280	MOD_RES	Phosphoserine	lost
1322	1387	REGION		lost
1328	1328	MOD_RES	Phosphoserine	lost
1336	1336	MOD_RES	Phosphoserine	lost
1338	1353	COMPBIAS	Basic and acidic residues	lost
1342	1342	MOD_RES	Phosphoserine	lost
1354	1387	COMPBIAS	Polar residues	lost
1387	1387	MOD_RES	Phosphoserine	lost
1394	1394	MOD_RES	Phosphothreonine	lost
1397	1424	REGION	Interaction with PALB2	lost
1423	1423	MOD_RES	Phosphoserine	lost
1440	1468	COMPBIAS	Polar residues	lost
1440	1505	REGION		lost
1457	1457	MOD_RES	Phosphoserine	lost
1478	1492	COMPBIAS	Polar residues	lost
1524	1524	MOD_RES	Phosphoserine	lost
1542	1542	MOD_RES	Phosphoserine	lost
1565	1596	REGION		lost
1642	1736	DOMAIN	BRCT	lost
1651	1656	STRAND		lost
1659	1671	HELIX		lost
1675	1679	STRAND		lost
1686	1689	STRAND		lost
1695	1697	STRAND		lost
1701	1708	HELIX		lost
1712	1715	STRAND		lost
1717	1725	HELIX		lost
1731	1734	HELIX		lost
1740	1742	TURN		lost
1743	1745	STRAND		lost
1748	1754	HELIX		lost
1755	1757	TURN		lost
1756	1855	DOMAIN	BRCT	lost
1760	1763	TURN		lost
1765	1768	STRAND		lost
1770	1772	STRAND		lost
1773	1775	STRAND		lost
1777	1786	HELIX		lost
1790	1794	STRAND		lost
1795	1797	HELIX		lost
1801	1803	STRAND		lost
1806	1810	STRAND		lost
1812	1814	HELIX		lost
1817	1819	STRAND		lost
1820	1822	HELIX		lost
1824	1827	HELIX		lost
1828	1830	STRAND		lost
1832	1834	STRAND		lost
1835	1844	HELIX		lost
1851	1853	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGTCTGGA

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGTCTGGA

Wildtype AA sequence

MDLSALRVEE VQNVINAMQK ILECPICLEL IKEPVSTKCD HIFCKFCMLK LLNQKKGPSQ
CPLCKNDITK RSLQESTRFS QLVEELLKII CAFQLDTGLE YANSYNFAKK ENNSPEHLKD
EVSIIQSMGY RNRAKRLLQS EPENPSLQET SLSVQLSNLG TVRTLRTKQR IQPQKTSVYI
ELGSDSSEDT VNKATYCSVG DQELLQITPQ GTRDEISLDS AKKAACEFSE TDVTNTEHHQ
PSNNDLNTTE KRAAERHPEK YQGSSVSNLH VEPCGTNTHA SSLQHENSSL LLTKDRMNVE
KAEFCNKSKQ PGLARSQHNR WAGSKETCND RRTPSTEKKV DLNADPLCER KEWNKQKLPC
SENPRDTEDV PWITLNSSIQ KVNEWFSRSD ELLGSDDSHD GESESNAKVA DVLDVLNEVD
EYSGSSEKID LLASDPHEAL ICKSERVHSK SVESNIEDKI FGKTYRKKAS LPNLSHVTEN
LIIGAFVTEP QIIQERPLTN KLKRKRRPTS GLHPEDFIKK ADLAVQKTPE MINQGTNQTE
QNGQVMNITN SGHENKTKGD SIQNEKNPNP IESLEKESAF KTKAEPISSS ISNMELELNI
HNSKAPKKNR LRRKSSTRHI HALELVVSRN LSPPNCTELQ IDSCSSSEEI KKKKYNQMPV
RHSRNLQLME GKEPATGAKK SNKPNEQTSK RHDSDTFPEL KLTNAPGSFT KCSNTSELKE
FVNPSLPREE KEEKLETVKV SNNAEDPKDL MLSGERVLQT ERSVESSSIS LVPGTDYGTQ
ESISLLEVST LGKAKTEPNK CVSQCAAFEN PKGLIHGCSK DNRNDTEGFK YPLGHEVNHS
RETSIEMEES ELDAQYLQNT FKVSKRQSFA PFSNPGNAEE ECATFSAHSG SLKKQSPKVT
FECEQKEENQ GKNESNIKPV QTVNITAGFP VVGQKDKPVD NAKCSIKGGS RFCLSSQFRG
NETGLITPNK HGLLQNPYRI PPLFPIKSFV KTKCKKNLLE ENFEEHSMSP EREMGNENIP
STVSTISRNN IRENVFKEAS SSNINEVGSS TNEVGSSINE IGSSDENIQA ELGRNRGPKL
NAMLRLGVLQ PEVYKQSLPG SNCKHPEIKK QEYEEVVQTV NTDFSPYLIS DNLEQPMGSS
HASQVCSETP DDLLDDGEIK EDTSFAENDI KESSAVFSKS VQKGELSRSP SPFTHTHLAQ
GYRRGAKKLE SSEENLSSED EELPCFQHLL FGKVNNIPSQ STRHSTVATE CLSKNTEENL
LSLKNSLNDC SNQVILAKAS QEHHLSEETK CSASLFSSQC SELEDLTANT NTQDPFLIGS
SKQMRHQSES QGVGLSDKEL VSDDEERGTG LEENNQEEQS MDSNLGEAAS GCESETSVSE
DCSGLSSQSD ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE
DLRNPEQSTS EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK
CPSLDDRWYM HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG
TPYLESGISL FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT
DTAGYNAMEE SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI
TEETTHVVMK TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV
VNGRNHQGPK RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL
GTGVHPIVVV QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH
SHY*

Mutated AA sequence

MDLSALRVEE VQNVINAMQK ILRVSHLSGV DQGTCLHKV*

Position of stopcodon in wt / mu CDS

5592 / 120

Position (AA) of stopcodon in wt / mu AA sequence

1864 / 40

Position of stopcodon in wt / mu cDNA

5705 / 233

Position of start ATG in wt / mu cDNA

114 / 114

Last intron/exon boundary

5580

Theoretical NMD boundary in CDS

5416

Length of CDS

5592

Coding sequence (CDS) position

66 / 67

cDNA position

179 / 180

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.15 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_7_ENST00000644555

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 37691 (pathogenic)

Model: 5utr
Tree vote: 62|36 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.71, LOF (oe): 0.92, misssense (oe): 0.71, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000644555.2

Genbank transcript ID

NM_001408458 (by similarity), NM_001408512 (by similarity), NM_001408510 (by similarity), NM_001408470 (by similarity), NM_001408469 (by similarity), NM_001408453 (by similarity), NM_001408508 (by similarity), NM_001408491 (by similarity), NM_001408506 (by similarity), NM_001408481 (by similarity), NM_001408480 (by similarity), NM_001408492 (by similarity), NM_001408468 (by similarity), NM_001408501 (by similarity), NM_001408455 (by similarity), NM_001408513 (by similarity), NM_001408503 (by similarity), NM_001408500 (by similarity), NM_001408466 (by similarity), NM_001408452 (by similarity), NM_001408497 (by similarity), NM_001408505 (by similarity), NM_001408507 (by similarity), NM_001408493 (by similarity), NM_001408490 (by similarity), NM_001408502 (by similarity), NM_001408489 (by similarity), NM_001408479 (by similarity), NM_001408456 (by similarity), NM_001408465 (by similarity), NM_001408482 (by similarity), NM_001408504 (by similarity), NM_001408463 (by similarity), NM_001408499 (by similarity), NM_001408484 (by similarity), NM_001408478 (by similarity), NM_001408462 (by similarity), NM_001408514 (by similarity), NM_001408485 (by similarity), NM_001408410 (by similarity), NM_001408483 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

5'UTR

DNA changes

cDNA.185_186insA
g.46215_46216insA

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGATGGAT

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGATGGAT

Wildtype AA sequence

MLKLLNQKKG PSQCPLCKND ITKRSLQEST RFSQLVEELL KIICAFQLDT GLEYANSYNF
AKKENNSPEH LKDEVSIIQS MGYRNRAKRL LQSEPENPSL QETSLSVQLS NLGTVRTLRT
KQRIQPQKTS VYIELGSDSS EDTVNKATYC SVGDQELLQI TPQGTRDEIS LDSAKKAACE
FSETDVTNTE HHQPSNNDLN TTEKRAAERH PEKYQGEAAS GCESETSVSE DCSGLSSQSD
ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE DLRNPEQSTS
EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK CPSLDDRWYM
HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG TPYLESGISL
FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT DTAGYNAMEE
SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI TEETTHVVMK
TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV VNGRNHQGPK
RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL GTGVHPIVVV
QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH SHY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

406 / 406

Last intron/exon boundary

2422

Theoretical NMD boundary in CDS

1966

Length of CDS

2142

Coding sequence (CDS) position

N/A

cDNA position

185 / 186

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_22_ENST00000652672

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 37691 (pathogenic)

Model: 5utr
Tree vote: 66|32 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.97, LOF (oe): 0.74, misssense (oe): 0.81, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000652672.2

Genbank transcript ID

NM_001407962 (by similarity), NM_001407885 (by similarity), NM_001407848 (by similarity), NM_001407839 (by similarity), NM_001407745 (by similarity), NM_001407922 (by similarity), NM_001407737 (by similarity), NM_001407728 (by similarity), NM_001407746 (by similarity), NM_001407886 (by similarity), NM_001407918 (by similarity), NM_001407894 (by similarity), NM_001407957 (by similarity), NM_001407953 (by similarity), NM_001407949 (by similarity), NM_001407909 (by similarity), NM_001407906 (by similarity), NM_001407887 (by similarity), NM_001407842 (by similarity), NM_001407749 (by similarity), NM_001407731 (by similarity), NM_001407889 (by similarity), NM_001407695 (by similarity), NM_001407846 (by similarity), NM_001407726 (by similarity), NM_001407943 (by similarity), NM_001407748 (by similarity), NM_001407921 (by similarity), NM_001407850 (by similarity), NM_001407752 (by similarity), NM_001407944 (by similarity), NM_001407734 (by similarity), NM_001407730 (by similarity), NM_001407934 (by similarity), NM_001407960 (by similarity), NM_001407964 (by similarity), NM_001407844 (by similarity), NM_001407743 (by similarity), NM_001407935 (by similarity), NM_001407926 (by similarity), NM_001407851 (by similarity), NM_001407735 (by similarity), NM_001407729 (by similarity), NM_001407899 (by similarity), NM_001407915 (by similarity), NM_001407916 (by similarity), NM_001407895 (by similarity), NM_001407853 (by similarity), NM_001407951 (by similarity), NM_001407946 (by similarity), NM_001407910 (by similarity), NM_001407904 (by similarity), NM_001407884 (by similarity), NM_001407930 (by similarity), NM_001407843 (by similarity), NM_001407733 (by similarity), NM_001407942 (by similarity), NM_001407694 (by similarity), NM_001407920 (by similarity), NM_001407696 (by similarity), NM_001407751 (by similarity), NM_001407847 (by similarity), NM_001407740 (by similarity), NM_001407933 (by similarity), NM_001407927 (by similarity), NM_001407923 (by similarity), NM_001407739 (by similarity), NM_001407725 (by similarity), NM_001407727 (by similarity), NM_001407896 (by similarity), NM_001407900 (by similarity), NM_001407952 (by similarity), NM_001407841 (by similarity), NM_001407571 (by similarity), NM_001407950 (by similarity), NM_001407948 (by similarity), NM_001407907 (by similarity), NM_001407879 (by similarity), NM_001407917 (by similarity), NM_001407897 (by similarity), NM_001407947 (by similarity), NM_001407908 (by similarity), NM_001407882 (by similarity), NM_001407724 (by similarity), NM_001407697 (by similarity), NM_001407838 (by similarity), NM_001407741 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

5'UTR

DNA changes

cDNA.292_293insA
g.46215_46216insA

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGACTTTG

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGACTTTG

Wildtype AA sequence

MLKLLNQKKG PSQCPLCKND ITKRSLQEST RFSQLVEELL KIICAFQLDT GLEYANSYNF
AKKENNSPEH LKDEVSIIQS MGYRNRAKRL LQSEPENPSL QETSLSVQLS NLGTVRTLRT
KQRIQPQKTS VYIELGSDSS EDTVNKATYC SVGDQELLQI TPQGTRDEIS LDSAKKAACE
FSETDVTNTE HHQPSNNDLN TTEKRAAERH PEKYQGSSVS NLHVEPCGTN THASSLQHEN
SSLLLTKDRM NVEKAEFCNK SKQPGLARSQ HNRWAGSKET CNDRRTPSTE KKVDLNADPL
CERKEWNKQK LPCSENPRDT EDVPWITLNS SIQKVNEWFS RSDELLGSDD SHDGESESNA
KVADVLDVLN EVDEYSGSSE KIDLLASDPH EALICKSERV HSKSVESNIE DKIFGKTYRK
KASLPNLSHV TENLIIGAFV TEPQIIQERP LTNKLKRKRR PTSGLHPEDF IKKADLAVQK
TPEMINQGTN QTEQNGQVMN ITNSGHENKT KGDSIQNEKN PNPIESLEKE SAFKTKAEPI
SSSISNMELE LNIHNSKAPK KNRLRRKSST RHIHALELVV SRNLSPPNCT ELQIDSCSSS
EEIKKKKYNQ MPVRHSRNLQ LMEGKEPATG AKKSNKPNEQ TSKRHDSDTF PELKLTNAPG
SFTKCSNTSE LKEFVNPSLP REEKEEKLET VKVSNNAEDP KDLMLSGERV LQTERSVESS
SISLVPGTDY GTQESISLLE VSTLGKAKTE PNKCVSQCAA FENPKGLIHG CSKDNRNDTE
GFKYPLGHEV NHSRETSIEM EESELDAQYL QNTFKVSKRQ SFAPFSNPGN AEEECATFSA
HSGSLKKQSP KVTFECEQKE ENQGKNESNI KPVQTVNITA GFPVVGQKDK PVDNAKCSIK
GGSRFCLSSQ FRGNETGLIT PNKHGLLQNP YRIPPLFPIK SFVKTKCKKN LLEENFEEHS
MSPEREMGNE NIPSTVSTIS RNNIRENVFK EASSSNINEV GSSTNEVGSS INEIGSSDEN
IQAELGRNRG PKLNAMLRLG VLQPEVYKQS LPGSNCKHPE IKKQEYEEVV QTVNTDFSPY
LISDNLEQPM GSSHASQVCS ETPDDLLDDG EIKEDTSFAE NDIKESSAVF SKSVQKGELS
RSPSPFTHTH LAQGYRRGAK KLESSEENLS SEDEELPCFQ HLLFGKVNNI PSQSTRHSTV
ATECLSKNTE ENLLSLKNSL NDCSNQVILA KASQEHHLSE ETKCSASLFS SQCSELEDLT
ANTNTQDPFL IGSSKQMRHQ SESQGVGLSD KELVSDDEER GTGLEENNQE EQSMDSNLGE
AASGCESETS VSEDCSGLSS QSDILTTQQR DTMQHNLIKL QQEMAELEAV LEQHGSQPSN
SYPSIISDSS ALEDLRNPEQ STSEKAVLTS QKSSEYPISQ NPEGLSADKF EVSADSSTSK
NKEPGVERSS PSKCPSLDDR WYMHSCSGSL QNRNYPSQEE LIKVVDVEEQ QLEESGPHDL
TETSYLPRQD LEGTPYLESG ISLFSDDPES DPSEDRAPES ARVGNIPSST SALKVPQLKV
AESAQSPAAA HTTDTAGYNA MEESVSREKP ELTASTERVN KRMSMVVSGL TPEEFMLVYK
FARKHHITLT NLITEETTHV VMKTDAEFVC ERTLKYFLGI AGGKWVVSYF WVTQSIKERK
MLNEHDFEVR GDVVNGRNHQ GPKRARESQD RKIFRGLEIC CYGPFTNMPT DQLEWMVQLC
GASVVKELSS FTLGTGVHPI VVVQPDAWTE DNGFHAIGQM CEAPVVTREW VLDSVALYQC
QELDTYLIPQ IPHSHY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

487 / 487

Last intron/exon boundary

5812

Theoretical NMD boundary in CDS

5275

Length of CDS

5451

Coding sequence (CDS) position

N/A

cDNA position

292 / 293

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_16_ENST00000493795

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 37691 (pathogenic)

Model: 5utr
Tree vote: 67|31 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.91, LOF (oe): 0.79, misssense (oe): 0.86, synonymous (oe): 0.83 ? (gnomAD)

Ensembl transcript ID

ENST00000493795.5

Genbank transcript ID

NM_001407959 (by similarity), NM_001407931 (by similarity), NM_001407747 (by similarity), NM_001407738 (by similarity), NM_001407898 (by similarity), NM_001407881 (by similarity), NM_001407932 (by similarity), NM_001407742 (by similarity), NM_001407928 (by similarity), NM_001407925 (by similarity), NM_001407945 (by similarity), NM_001407736 (by similarity), NM_007297 (by similarity), NM_001407963 (by similarity), NM_001407692 (by similarity), NM_001407936 (by similarity), NM_001407849 (by similarity), NM_001407845 (by similarity), NM_001407744 (by similarity), NM_001407929 (by similarity), NM_001407924 (by similarity), NM_001407852 (by similarity), NM_001407750 (by similarity), NM_001407732 (by similarity), NM_001407698 (by similarity), NM_001407902 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

5'UTR

DNA changes

cDNA.211_212insA
g.46215_46216insA

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGATTTTG

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGATTTTG

Wildtype AA sequence

MLKLLNQKKG PSQCPLCKND ITKRSLQEST RFSQLVEELL KIICAFQLDT GLEYANSYNF
AKKENNSPEH LKDEVSIIQS MGYRNRAKRL LQSEPENPSL QETSLSVQLS NLGTVRTLRT
KQRIQPQKTS VYIELGSDSS EDTVNKATYC SVGDQELLQI TPQGTRDEIS LDSAKKAACE
FSETDVTNTE HHQPSNNDLN TTEKRAAERH PEKYQGSSVS NLHVEPCGTN THASSLQHEN
SSLLLTKDRM NVEKAEFCNK SKQPGLARSQ HNRWAGSKET CNDRRTPSTE KKVDLNADPL
CERKEWNKQK LPCSENPRDT EDVPWITLNS SIQKVNEWFS RSDELLGSDD SHDGESESNA
KVADVLDVLN EVDEYSGSSE KIDLLASDPH EALICKSERV HSKSVESNIE DKIFGKTYRK
KASLPNLSHV TENLIIGAFV TEPQIIQERP LTNKLKRKRR PTSGLHPEDF IKKADLAVQK
TPEMINQGTN QTEQNGQVMN ITNSGHENKT KGDSIQNEKN PNPIESLEKE SAFKTKAEPI
SSSISNMELE LNIHNSKAPK KNRLRRKSST RHIHALELVV SRNLSPPNCT ELQIDSCSSS
EEIKKKKYNQ MPVRHSRNLQ LMEGKEPATG AKKSNKPNEQ TSKRHDSDTF PELKLTNAPG
SFTKCSNTSE LKEFVNPSLP REEKEEKLET VKVSNNAEDP KDLMLSGERV LQTERSVESS
SISLVPGTDY GTQESISLLE VSTLGKAKTE PNKCVSQCAA FENPKGLIHG CSKDNRNDTE
GFKYPLGHEV NHSRETSIEM EESELDAQYL QNTFKVSKRQ SFAPFSNPGN AEEECATFSA
HSGSLKKQSP KVTFECEQKE ENQGKNESNI KPVQTVNITA GFPVVGQKDK PVDNAKCSIK
GGSRFCLSSQ FRGNETGLIT PNKHGLLQNP YRIPPLFPIK SFVKTKCKKN LLEENFEEHS
MSPEREMGNE NIPSTVSTIS RNNIRENVFK EASSSNINEV GSSTNEVGSS INEIGSSDEN
IQAELGRNRG PKLNAMLRLG VLQPEVYKQS LPGSNCKHPE IKKQEYEEVV QTVNTDFSPY
LISDNLEQPM GSSHASQVCS ETPDDLLDDG EIKEDTSFAE NDIKESSAVF SKSVQKGELS
RSPSPFTHTH LAQGYRRGAK KLESSEENLS SEDEELPCFQ HLLFGKVNNI PSQSTRHSTV
ATECLSKNTE ENLLSLKNSL NDCSNQVILA KASQEHHLSE ETKCSASLFS SQCSELEDLT
ANTNTQDPFL IGSSKQMRHQ SESQGVGLSD KELVSDDEER GTGLEENNQE EQSMDSNLGE
AASGCESETS VSEDCSGLSS QSDILTTQQR DTMQHNLIKL QQEMAELEAV LEQHGSQPSN
SYPSIISDSS ALEDLRNPEQ STSEKAVLTS QKSSEYPISQ NPEGLSADKF EVSADSSTSK
NKEPGVERSS PSKCPSLDDR WYMHSCSGSL QNRNYPSQEE LIKVVDVEEQ QLEESGPHDL
TETSYLPRQD LEGTPYLESG ISLFSDDPES DPSEDRAPES ARVGNIPSST SALKVPQLKV
AESAQSPAAA HTTDTAGYNA MEESVSREKP ELTASTERVN KRMSMVVSGL TPEEFMLVYK
FARKHHITLT NLITEETTHV VMKTDAEFVC ERTLKYFLGI AGGKWVVSYF WVTQSIKERK
MLNEHDFEVR GDVVNGRNHQ GPKRARESQD RKIFRGLEIC CYGPFTNMPT DQLEWMVQLC
GASVVKELSS FTLGTGVHPI VVVQPDAWTE DNGFHAIGQM CEAPVVTREW VLDSVALYQC
QELDTYLIPQ IPHSHY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

233 / 233

Last intron/exon boundary

5558

Theoretical NMD boundary in CDS

5275

Length of CDS

5451

Coding sequence (CDS) position

N/A

cDNA position

211 / 212

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_25_ENST00000493919

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 37691 (pathogenic)

Model: 5utr
Tree vote: 77|22 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.91, LOF (oe): 0.72, misssense (oe): 0.83, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000493919.6

Genbank transcript ID

NM_001408461 (by similarity), NM_001408464 (by similarity), NM_001408498 (by similarity), NM_001408467 (by similarity), NM_001408459 (by similarity), NM_001408511 (by similarity), NM_001408457 (by similarity), NM_001408496 (by similarity), NM_001408460 (by similarity), NM_001408454 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

5'UTR

DNA changes

cDNA.211_212insA
g.46215_46216insA

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

15

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGATTTTG

Altered cDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGATTTTG

Wildtype AA sequence

MLKLLNQKKG PSQCPLCKND ITKRSLQEST RFSQLVEELL KIICAFQLDT GLEYANSYNF
AKKENNSPEH LKDEVSIIQS MGYRNRAKRL LQSEPENPSL QETSLSVQLS NLGTVRTLRT
KQRIQPQKTS VYIELGSDSS EDTVNKATYC SVGDQELLQI TPQGTRDEIS LDSAKKAACE
FSETDVTNTE HHQPSNNDLN TTEKRAAERH PEKYQGEAAS GCESETSVSE DCSGLSSQSD
ILTTQQRDTM QHNLIKLQQE MAELEAVLEQ HGSQPSNSYP SIISDSSALE DLRNPEQSTS
EKAVLTSQKS SEYPISQNPE GLSADKFEVS ADSSTSKNKE PGVERSSPSK CPSLDDRWYM
HSCSGSLQNR NYPSQEELIK VVDVEEQQLE ESGPHDLTET SYLPRQDLEG TPYLESGISL
FSDDPESDPS EDRAPESARV GNIPSSTSAL KVPQLKVAES AQSPAAAHTT DTAGYNAMEE
SVSREKPELT ASTERVNKRM SMVVSGLTPE EFMLVYKFAR KHHITLTNLI TEETTHVVMK
TDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV VNGRNHQGPK
RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL GTGVHPIVVV
QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH SHY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

233 / 233

Last intron/exon boundary

2249

Theoretical NMD boundary in CDS

1966

Length of CDS

2142

Coding sequence (CDS) position

N/A

cDNA position

211 / 212

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_1_ENST00000497488

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 37691 (pathogenic)

Model: without_aae
Tree vote: 175|25 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.35, LOF (oe): 0.80, misssense (oe): 0.83, synonymous (oe): 0.79 ? (gnomAD)

Ensembl transcript ID

ENST00000497488.2

Genbank transcript ID

NM_001407967 (by similarity), NM_001407966 (by similarity), NM_001407965 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.-219+1240_-219+1241insA
g.46215_46216insA

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MNVEKAEFCN KSKQPGLARS QHNRWAGSKE TCNDRRTPST EKKVDLNADP LCERKEWNKQ
KLPCSENPRD TEDVPWITLN SSIQKVNEWF SRSDELLGSD DSHDGESESN AKVADVLDVL
NEVDEYSGSS EKIDLLASDP HEALICKSER VHSKSVESNI EDKIFGKTYR KKASLPNLSH
VTENLIIGAF VTEPQIIQER PLTNKLKRKR RPTSGLHPED FIKKADLAVQ KTPEMINQGT
NQTEQNGQVM NITNSGHENK TKGDSIQNEK NPNPIESLEK ESAFKTKAEP ISSSISNMEL
ELNIHNSKAP KKNRLRRKSS TRHIHALELV VSRNLSPPNC TELQIDSCSS SEEIKKKKYN
QMPVRHSRNL QLMEGKEPAT GAKKSNKPNE QTSKRHDSDT FPELKLTNAP GSFTKCSNTS
ELKEFVNPSL PREEKEEKLE TVKVSNNAED PKDLMLSGER VLQTERSVES SSISLVPGTD
YGTQESISLL EVSTLGKAKT EPNKCVSQCA AFENPKGLIH GCSKDNRNDT EGFKYPLGHE
VNHSRETSIE MEESELDAQY LQNTFKVSKR QSFAPFSNPG NAEEECATFS AHSGSLKKQS
PKVTFECEQK EENQGKNESN IKPVQTVNIT AGFPVVGQKD KPVDNAKCSI KGGSRFCLSS
QFRGNETGLI TPNKHGLLQN PYRIPPLFPI KSFVKTKCKK NLLEENFEEH SMSPEREMGN
ENIPSTVSTI SRNNIRENVF KEASSSNINE VGSSTNEVGS SINEIGSSDE NIQAELGRNR
GPKLNAMLRL GVLQPEVYKQ SLPGSNCKHP EIKKQEYEEV VQTVNTDFSP YLISDNLEQP
MGSSHASQVC SETPDDLLDD GEIKEDTSFA ENDIKESSAV FSKSVQKGEL SRSPSPFTHT
HLAQGYRRGA KKLESSEENL SSEDEELPCF QHLLFGKVNN IPSQSTRHST VATECLSKNT
EENLLSLKNS LNDCSNQVIL AKASQEHHLS EETKCSASLF SSQCSELEDL TANTNTQDPF
LIGSSKQMRH QSESQGVGLS DKELVSDDEE RGTGLEENNQ EEQSMDSNLG EAASGCESET
SVSEDCSGLS SQSDILTTQQ RDTMQHNLIK LQQEMAELEA VLEQHGSQPS NSYPSIISDS
SALEDLRNPE QSTSEKAVLT SQKSSEYPIS QNPEGLSADK FEVSADSSTS KNKEPGVERS
SPSKCPSLDD RWYMHSCSGS LQNRNYPSQE ELIKVVDVEE QQLEESGPHD LTETSYLPRQ
DLEGTPYLES GISLFSDDPE SDPSEDRAPE SARVGNIPSS TSALKVPQLK VAESAQSPAA
AHTTDTAGYN AMEESVSREK PELTASTERV NKRMSMVVSG LTPEEFMLVY KFARKHHITL
TNLITEETTH VVMKTDAEFV CERTLKYFLG IAGGKWVVSY FWVTQSIKER KMLNEHDFEV
RGDVVNGRNH QGPKRARESQ DRKIFRGLEI CCYGPFTNMP TDQLEWMVQL CGASVVKELS
SFTLGTGVHP IVVVQPDAWT EDNGFHAIGQ MCEAPVVTRE WVLDSVALYQ CQELDTYLIP
QIPHSHY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

249 / 249

Last intron/exon boundary

4827

Theoretical NMD boundary in CDS

4528

Length of CDS

4704

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_13_ENST00000586385

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 37691 (pathogenic)

Model: without_aae
Tree vote: 193|7 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.14, LOF (oe): 0.83, misssense (oe): 0.88, synonymous (oe): 0.79 ? (gnomAD)

Ensembl transcript ID

ENST00000586385.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.4+1151_4+1152insA
g.46215_46216insA

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MDAEFVCERT LKYFLGIAGG KWVVSYFWVT QSIKERKMLN EHDFEVRGDV VNGRNHQGPK
RARESQDRKI FRGLEICCYG PFTNMPTDQL EWMVQLCGAS VVKELSSFTL GTGVHPIVVV
QPDAWTEDNG FHAIGQMCEA PVVTREWVLD SVALYQCQEL DTYLIPQIPH SHY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

145 / 145

Last intron/exon boundary

541

Theoretical NMD boundary in CDS

346

Length of CDS

522

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_14_ENST00000591534

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 37691 (pathogenic)

Model: without_aae
Tree vote: 194|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.94, LOF (oe): 0.71, misssense (oe): 0.87, synonymous (oe): 0.86 ? (gnomAD)

Ensembl transcript ID

ENST00000591534.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.-44+1240_-44+1241insA
g.46215_46216insA

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MHSCSGSLQN RNYPSQEELI KVVDVEEQQL EESGPHDLTE TSYLPRQDLE GTPYLESGIS
LFSDDPESDP SEDRAPESAR VGNIPSSTSA LKVPQLKVAE SAQSPAAAHT TDTAGYNAME
ESVSREKPEL TASTERVNKR MSMVVSGLTP EEFMLVYKFA RKHHITLTNL ITEETTHVVM
KTDAEFVCER TLKYFLGIAG GKWVVSYFWV TQSIKERKML NEHDFEVRGD VVNGRNHQGP
KRARESQDRK IFRGLEICCY GPFTNMPTDQ LEWMVQLCGA SVVKELSSFT LGTGVHPIVV
VQPDAWTEDN GFHAIGQMCE APVVTREWVL DSVALYQCQE LDTYLIPQIP HSHY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

103 / 103

Last intron/exon boundary

1042

Theoretical NMD boundary in CDS

889

Length of CDS

1065

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

17:43124030C>CT_15_ENST00000591849

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 37691 (pathogenic)

Model: without_aae
Tree vote: 194|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:43124030_43124031insT (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.34, LOF (oe): 0.84, misssense (oe): 1.01, synonymous (oe): 0.67 ? (gnomAD)

Ensembl transcript ID

ENST00000591849.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Insertion

Gene region

intron

DNA changes

c.-99+1240_-99+1241insA
g.46215_46216insA

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

BRCA1-related disorder
Breast carcinoma
Breast neoplasm
Hereditary breast ovarian cancer syndrome
BRCA1-related cancer predisposition
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Ovarian neoplasm
Familial cancer of breast

pathogenic

Variant DBs

dbSNP ID	rs80357783
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.525	1
(flanking)	-0.118	0.993

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

-1

Original gDNA sequence snippet

ATGCTATGCAGAAAATCTTAGAGTGTCCCATCTGGTAAGT

Altered gDNA sequence snippet

ATGCTATGCAGAAAATCTTAAGAGTGTCCCATCTGGTAAGT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSDSKKTWLQ YQLEWMVQLC GASVVKELSS FTLGTGVHPI VVVQPDAWTE DNGFHAIGQM
CEAPVVTREW VLDSVALYQC QELDTYLIPQ IPHSHY*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

158 / 158

Last intron/exon boundary

323

Theoretical NMD boundary in CDS

115

Length of CDS

291

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

46215 / 46216

Chromosomal position

43124030 / 43124031

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project