MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 9342 (pathogenic)
NMD

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

Analysed issue

Analysis result

Variant

Chr13:32329468_32329469delTG (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000713678.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.657_658delTG
g.14383_14384delTG

AA changes

V220Ifs*4

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Gastric cancer
Wilms tumor 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Fanconi anemia complementation group D1
Malignant tumor of prostate
Medulloblastoma
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast and/or ovarian cancer
Uterine corpus cancer
BRCA2-related cancer predisposition
Malignant tumor of breast
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome

pathogenic

Variant DBs

dbSNP ID	rs80359604
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	41	41

Protein conservation

Species	Match	AA	Alignment
Human		220	L	I	V	R	N	E	E	A	S	E	T	V	F	P	H	D	T	T	A	N	V	K	S	Y
mutated	all conserved	220	L	I	V	R	N	E	E	A	S	E	T	I
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)	-0.015	0.002
	1.392	0.004
	-0.101	0
(flanking)	-0.336	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

13

Strand

1

Original gDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered gDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Original cDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered cDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Wildtype AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL
KKNDRFIASV TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE KYSFVSEVEP
NDTDPLDSNV ANQKPFESGS DKISKEVVPS LACEWSQLTL SGLNGAQMEK IPLLHISSCD
QNISEKDLLD TENKRKKDFL TSENSLPRIS SLPKSEKPLN EETVVNKRDE EQHLESHTDC
ILAVKQAISG TSPVASSFQG IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL
EIHTVCSQKE DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN DSEEPTLSLT
SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL FITPEADSLS CLQEGQCEND
PKSKKVSDIK EEVLAAACHP VQHSKVEYSD TDFQSQKSLL YDHENASTLI LTPTSKDVLS
NLVMISRGKE SYKMSDKLKG NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM
RVASPSRKVQ FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV LAEENKNSVK
QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI SNHSFGGSFR TASNKEIKLS
EHNIKKSKMF FKDIEEQYPT SLACVEIVNT LALDNQKKLS KPQSINTVSA HLQSSVVVSD
CKNSHITPQM LFSKQDFNSN HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS
TFEVPENQMT ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE TSAEVHPISL
SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM TTGTFVEEIT ENYKRNTENE
DNKYTAASRN SHNLEFDGSD SSKNDTVCIH KDETDLLFTD QHNICLKLSG QFMKEGNTQI
KEDLSDLTFL EVAKAQEACH GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK
ESFNKIVNFF DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE QGTSEITSFS
HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN DKNLVSIETV VPPKLLSDNL
CRQTENLKTS KSIFLKVKVH ENVEKETAKS PATCYTNQSP YSVIENSALA FYTSCSRKTS
VSQTSLLEAK KWLREGIFDG QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL
SNSSMSNSYS YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK IVCVSHETIK
KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS EDILHNSLDN DECSTHSHKV
FADIQSEEIL QHNQNMSGLE KVSKISPCDV SLETSDICKC SIGKLHKSVS SANTCGIFST
ASGKSVQVSD ASLQNARQVF SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI
SQKGFSYNVV NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK VSPYLSQFQQ
DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF SDVPVKTNIE VCSTYSKDSE
NYFETEAVEI AKAFMEDDEL TDSKLPSHAT HSLFTCPENE EMVLSNSRIG KRRGEPLILV
GEPSIKRNLL NEFDRIIENQ EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE
RQEIQNPNFT APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN DNEIHQFNKN
NSNQAVAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR QRVFPQPGSL YLAKTSTLPR
ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI KINSKNAESF QFHTEDYFGK ESLWTGKGIQ
LADGGWLIPS NDGKAGKEEF YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK
EFANRCLSPE RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK IILHGAELVG
SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP FPLPLSSLFS DGGNVGCVDV
IIQRAYPIQW MEKTSSGLYI FRNEREEEKE AAKYVEAQQK RLEALFTKIQ EEFEEHEENT
TKPYLPSRAL TRQQVRALQD GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK
QAQIQLEIRK AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSVILSIW RPSSDLYSLL
TEGKRYRIYH LATSKSKSKS ERANIQLAAT KKTQYQQLPV SDEILFQIYQ PREPLHFSKF
LDPDFQPSCS EVDLIGFVVS VVKKTGLAPF VYLSDECYNL LAIKFWIDLN EDIIKPHMLI
AASNLQWRPE SKSGLLTLFA GDFSVFSASP KEGHFQETFN KMKNTVENID ILCNEAENKL
MHILHANDPK WSTPTKDCTS GPYTAQIIPG TGNKLLEVCF HTCLSPDDFK VL*

Mutated AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETI SS*

Position of stopcodon in wt / mu CDS

9699 / 669

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

3233 / 223

Position of stopcodon in wt / mu cDNA

9910 / 880

Position of start ATG in wt / mu cDNA

212 / 212

Last intron/exon boundary

9859

Theoretical NMD boundary in CDS

9597

Length of CDS

9699

Coding sequence (CDS) position

656 / 659

cDNA position

867 / 870

gDNA position

14382 / 14385

Chromosomal position

32329467 / 32329470

Speed

0.11 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:

13:32329467CTG>C_3_ENST00000530893

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 9342 (pathogenic)
NMD

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

Analysed issue

Analysis result

Variant

Chr13:32329468_32329469delTG (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.94, LOF (oe): 0.52, misssense (oe): 0.96, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000530893.7

Genbank transcript ID

NM_001406722 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.288_289delTG
g.14383_14384delTG

AA changes

V97Ifs*4

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Gastric cancer
Wilms tumor 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Fanconi anemia complementation group D1
Malignant tumor of prostate
Medulloblastoma
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast and/or ovarian cancer
Uterine corpus cancer
BRCA2-related cancer predisposition
Malignant tumor of breast
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome

pathogenic

Variant DBs

dbSNP ID	rs80359604
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	41	41

Protein conservation

Species	Match	AA	Alignment
Human		97	L	I	V	R	N	E	E	A	S	E	T	V	F	P	H	D	T	T	A	N	V	K	S	Y
mutated	all conserved	97	L	I	V	R	N	E	E	A	S	E	T	I
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)	-0.015	0.002
	1.392	0.004
	-0.101	0
(flanking)	-0.336	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

13

Strand

1

Original gDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered gDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Original cDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered cDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Wildtype AA sequence

MDQADDVSCP LLNSCLSESP VVLQCTHVTP QRDKSVVCGS LFHTPKFVKG RQTPKHISES
LGAEVDPDMS WSSSLATPPT LSSTVLIVRN EEASETVFPH DTTANVKSYF SNHDESLKKN
DRFIASVTDS ENTNQREAAS HGFGKTSGNS FKVNSCKDHI GKSMPNVLED EVYETVVDTS
EEDSFSLCFS KCRTKNLQKV RTSKTRKKIF HEANADECEK SKNQVKEKYS FVSEVEPNDT
DPLDSNVANQ KPFESGSDKI SKEVVPSLAC EWSQLTLSGL NGAQMEKIPL LHISSCDQNI
SEKDLLDTEN KRKKDFLTSE NSLPRISSLP KSEKPLNEET VVNKRDEEQH LESHTDCILA
VKQAISGTSP VASSFQGIKK SIFRIRESPK ETFNASFSGH MTDPNFKKET EASESGLEIH
TVCSQKEDSL CPNLIDNGSW PATTTQNSVA LKNAGLISTL KKKTNKFIYA IHDETSYKGK
KIPKDQKSEL INCSAQFEAN AFEAPLTFAN ADSGLLHSSV KRSCSQNDSE EPTLSLTSSF
GTILRKCSRN ETCSNNTVIS QDLDYKEAKC NKEKLQLFIT PEADSLSCLQ EGQCENDPKS
KKVSDIKEEV LAAACHPVQH SKVEYSDTDF QSQKSLLYDH ENASTLILTP TSKDVLSNLV
MISRGKESYK MSDKLKGNNY ESDVELTKNI PMEKNQDVCA LNENYKNVEL LPPEKYMRVA
SPSRKVQFNQ NTNLRVIQKN QEETTSISKI TVNPDSEELF SDNENNFVFQ VANERNNLAL
GNTKELHETD LTCVNEPIFK NSTMVLYGDT GDKQATQVSI KKDLVYVLAE ENKNSVKQHI
KMTLGQDLKS DISLNIDKIP EKNNDYMNKW AGLLGPISNH SFGGSFRTAS NKEIKLSEHN
IKKSKMFFKD IEEQYPTSLA CVEIVNTLAL DNQKKLSKPQ SINTVSAHLQ SSVVVSDCKN
SHITPQMLFS KQDFNSNHNL TPSQKAEITE LSTILEESGS QFEFTQFRKP SYILQKSTFE
VPENQMTILK TTSEECRDAD LHVIMNAPSI GQVDSSKQFE GTVEIKRKFA GLLKNDCNKS
ASGYLTDENE VGFRGFYSAH GTKLNVSTEA LQKAVKLFSD IENISEETSA EVHPISLSSS
KCHDSVVSMF KIENHNDKTV SEKNNKCQLI LQNNIEMTTG TFVEEITENY KRNTENEDNK
YTAASRNSHN LEFDGSDSSK NDTVCIHKDE TDLLFTDQHN ICLKLSGQFM KEGNTQIKED
LSDLTFLEVA KAQEACHGNT SNKEQLTATK TEQNIKDFET SDTFFQTASG KNISVAKESF
NKIVNFFDQK PEELHNFSLN SELHSDIRKN KMDILSYEET DIVKHKILKE SVPVGTGNQL
VTFQGQPERD EKIKEPTLLG FHTASGKKVK IAKESLDKVK NLFDEKEQGT SEITSFSHQW
AKTLKYREAC KDLELACETI EITAAPKCKE MQNSLNNDKN LVSIETVVPP KLLSDNLCRQ
TENLKTSKSI FLKVKVHENV EKETAKSPAT CYTNQSPYSV IENSALAFYT SCSRKTSVSQ
TSLLEAKKWL REGIFDGQPE RINTADYVGN YLYENNSNST IAENDKNHLS EKQDTYLSNS
SMSNSYSYHS DEVYNDSGYL SKNKLDSGIE PVLKNVEDQK NTSFSKVISN VKDANAYPQT
VNEDICVEEL VTSSSPCKNK NAAIKLSISN SNNFEVGPPA FRIASGKIVC VSHETIKKVK
DIFTDSFSKV IKENNENKSK ICQTKIMAGC YEALDDSEDI LHNSLDNDEC STHSHKVFAD
IQSEEILQHN QNMSGLEKVS KISPCDVSLE TSDICKCSIG KLHKSVSSAN TCGIFSTASG
KSVQVSDASL QNARQVFSEI EDSTKQVFSK VLFKSNEHSD QLTREENTAI RTPEHLISQK
GFSYNVVNSS AFSGFSTASG KQVSILESSL HKVKGVLEEF DLIRTEHSLH YSPTSRQNVS
KILPRVDKRN PEHCVNSEME KTCSKEFKLS NNLNVEGGSS ENNHSIKVSP YLSQFQQDKQ
QLVLGTKVSL VENIHVLGKE QASPKNVKME IGKTETFSDV PVKTNIEVCS TYSKDSENYF
ETEAVEIAKA FMEDDELTDS KLPSHATHSL FTCPENEEMV LSNSRIGKRR GEPLILVGEP
SIKRNLLNEF DRIIENQEKS LKASKSTPDG TIKDRRLFMH HVSLEPITCV PFRTTKERQE
IQNPNFTAPG QEFLSKSHLY EHLTLEKSSS NLAVSGHPFY QVSATRNEKM RHLITTGRPT
KVFVPPFKTK SHFHRVEQCV RNINLEENRQ KQNIDGHGSD DSKNKINDNE IHQFNKNNSN
QAVAVTFTKC EEEPLDLITS LQNARDIQDM RIKKKQRQRV FPQPGSLYLA KTSTLPRISL
KAAVGGQVPS ACSHKQLYTY GVSKHCIKIN SKNAESFQFH TEDYFGKESL WTGKGIQLAD
GGWLIPSNDG KAGKEEFYRA LCDTPGVDPK LISRIWVYNH YRWIIWKLAA MECAFPKEFA
NRCLSPERVL LQLKYRYDTE IDRSRRSAIK KIMERDDTAA KTLVLCVSDI ISLSANISET
SSNKTSSADT QKVAIIELTD GWYAVKAQLD PPLLAVLKNG RLTVGQKIIL HGAELVGSPD
ACTPLEAPES LMLKISANST RPARWYTKLG FFPDPRPFPL PLSSLFSDGG NVGCVDVIIQ
RAYPIQWMEK TSSGLYIFRN EREEEKEAAK YVEAQQKRLE ALFTKIQEEF EEHEENTTKP
YLPSRALTRQ QVRALQDGAE LYEAVKNAAD PAYLEGYFSE EQLRALNNHR QMLNDKKQAQ
IQLEIRKAME SAEQKEQGLS RDVTTVWKLR IVSYSKKEKD SVILSIWRPS SDLYSLLTEG
KRYRIYHLAT SKSKSKSERA NIQLAATKKT QYQQLPVSDE ILFQIYQPRE PLHFSKFLDP
DFQPSCSEVD LIGFVVSVVK KTGLAPFVYL SDECYNLLAI KFWIDLNEDI IKPHMLIAAS
NLQWRPESKS GLLTLFAGDF SVFSASPKEG HFQETFNKMK NTVENIDILC NEAENKLMHI
LHANDPKWST PTKDCTSGPY TAQIIPGTGN KLLMSSPNCE IYYQSPLSLC MAKRKSVSTP
VSAQMTSKSC KGEKEIDDQK NCKKRRALDF LSRLPLPPPV SPICTFVSPA AQKAFQPPRS
CGTKYETPIK KKELNSPQMT PFKKFNEISL LESNSIADEE LALINTQALL SGSTGEKQFI
SVSESTRTAP TSSEDYLRLK RRCTTSLIKE QESSQASTEE CEKNKQDTIT TKKYI*

Mutated AA sequence

MDQADDVSCP LLNSCLSESP VVLQCTHVTP QRDKSVVCGS LFHTPKFVKG RQTPKHISES
LGAEVDPDMS WSSSLATPPT LSSTVLIVRN EEASETISS*

Position of stopcodon in wt / mu CDS

9888 / 300

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

3296 / 100

Position of stopcodon in wt / mu cDNA

10455 / 867

Position of start ATG in wt / mu cDNA

568 / 568

Last intron/exon boundary

9846

Theoretical NMD boundary in CDS

9228

Length of CDS

9888

Coding sequence (CDS) position

287 / 290

cDNA position

854 / 857

gDNA position

14382 / 14385

Chromosomal position

32329467 / 32329470

Speed

0.11 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:

13:32329467CTG>C_4_ENST00000700202

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 9342 (pathogenic)
NMD

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

Analysed issue

Analysis result

Variant

Chr13:32329468_32329469delTG (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000700202.2

Genbank transcript ID

NM_001406720 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.657_658delTG
g.14383_14384delTG

AA changes

V220Ifs*4

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Gastric cancer
Wilms tumor 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Fanconi anemia complementation group D1
Malignant tumor of prostate
Medulloblastoma
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast and/or ovarian cancer
Uterine corpus cancer
BRCA2-related cancer predisposition
Malignant tumor of breast
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome

pathogenic

Variant DBs

dbSNP ID	rs80359604
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	41	41

Protein conservation

Species	Match	AA	Alignment
Human		220	L	I	V	R	N	E	E	A	S	E	T	V	F	P	H	D	T	T	A	N	V	K	S	Y
mutated	all conserved	220	L	I	V	R	N	E	E	A	S	E	T	I
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)	-0.015	0.002
	1.392	0.004
	-0.101	0
(flanking)	-0.336	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

13

Strand

1

Original gDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered gDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Original cDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered cDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Wildtype AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL
KKNDRFIASV TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE KYSFVSEVEP
NDTDPLDSNV ANQKPFESGS DKISKEVVPS LACEWSQLTL SGLNGAQMEK IPLLHISSCD
QNISEKDLLD TENKRKKDFL TSENSLPRIS SLPKSEKPLN EETVVNKRDE EQHLESHTDC
ILAVKQAISG TSPVASSFQG IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL
EIHTVCSQKE DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN DSEEPTLSLT
SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL FITPEADSLS CLQEGQCEND
PKSKKVSDIK EEVLAAACHP VQHSKVEYSD TDFQSQKSLL YDHENASTLI LTPTSKDVLS
NLVMISRGKE SYKMSDKLKG NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM
RVASPSRKVQ FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV LAEENKNSVK
QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI SNHSFGGSFR TASNKEIKLS
EHNIKKSKMF FKDIEEQYPT SLACVEIVNT LALDNQKKLS KPQSINTVSA HLQSSVVVSD
CKNSHITPQM LFSKQDFNSN HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS
TFEVPENQMT ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE TSAEVHPISL
SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM TTGTFVEEIT ENYKRNTENE
DNKYTAASRN SHNLEFDGSD SSKNDTVCIH KDETDLLFTD QHNICLKLSG QFMKEGNTQI
KEDLSDLTFL EVAKAQEACH GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK
ESFNKIVNFF DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE QGTSEITSFS
HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN DKNLVSIETV VPPKLLSDNL
CRQTENLKTS KSIFLKVKVH ENVEKETAKS PATCYTNQSP YSVIENSALA FYTSCSRKTS
VSQTSLLEAK KWLREGIFDG QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL
SNSSMSNSYS YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK IVCVSHETIK
KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS EDILHNSLDN DECSTHSHKV
FADIQSEEIL QHNQNMSGLE KVSKISPCDV SLETSDICKC SIGKLHKSVS SANTCGIFST
ASGKSVQVSD ASLQNARQVF SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI
SQKGFSYNVV NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK VSPYLSQFQQ
DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF SDVPVKTNIE VCSTYSKDSE
NYFETEAVEI AKAFMEDDEL TDSKLPSHAT HSLFTCPENE EMVLSNSRIG KRRGEPLILV
GEPSIKRNLL NEFDRIIENQ EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE
RQEIQNPNFT APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN DNEIHQFNKN
NSNQAVAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR QRVFPQPGSL YLAKTSTLPR
ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI KINSKNAESF QFHTEDYFGK ESLWTGKGIQ
LADGGWLIPS NDGKAGKEEF YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK
EFANRCLSPE RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK IILHGAELVG
SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP FPLPLSSLFS DGGNVGCVDV
IIQRAYPIQW MEKTSSGLYI FRNEREEEKE AAKYVEAQQK RLEALFTKIQ EEFEEHEENT
TKPYLPSRAL TRQQVRALQD GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK
QAQIQLEIRK AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSEGKRYR IYHLATSKSK
SKSERANIQL AATKKTQYQQ LPVSDEILFQ IYQPREPLHF SKFLDPDFQP SCSEVDLIGF
VVSVVKKTGL APFVYLSDEC YNLLAIKFWI DLNEDIIKPH MLIAASNLQW RPESKSGLLT
LFAGDFSVFS ASPKEGHFQE TFNKMKNTVE NIDILCNEAE NKLMHILHAN DPKWSTPTKD
CTSGPYTAQI IPGTGNKLLM SSPNCEIYYQ SPLSLCMAKR KSVSTPVSAQ MTSKSCKGEK
EIDDQKNCKK RRALDFLSRL PLPPPVSPIC TFVSPAAQKA FQPPRSCGTK YETPIKKKEL
NSPQMTPFKK FNEISLLESN SIADEELALI NTQALLSGST GEKQFISVSE STRTAPTSSE
DYLRLKRRCT TSLIKEQESS QASTEECEKN KQDTITTKKY I*

Mutated AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETI SS*

Position of stopcodon in wt / mu CDS

10206 / 669

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

3402 / 223

Position of stopcodon in wt / mu cDNA

10405 / 868

Position of start ATG in wt / mu cDNA

200 / 200

Last intron/exon boundary

9796

Theoretical NMD boundary in CDS

9546

Length of CDS

10206

Coding sequence (CDS) position

656 / 659

cDNA position

855 / 858

gDNA position

14382 / 14385

Chromosomal position

32329467 / 32329470

Speed

0.08 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:

13:32329467CTG>C_1_ENST00000544455

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 9342 (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

Chr13:32329468_32329469delTG (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.80, LOF (oe): 0.71, misssense (oe): 0.95, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000544455.6

Genbank transcript ID

UniProt / AlphaMissense peptide

BRCA2_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.657_658delTG
g.14383_14384delTG

AA changes

V220Ifs*4

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Gastric cancer
Wilms tumor 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Fanconi anemia complementation group D1
Malignant tumor of prostate
Medulloblastoma
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast and/or ovarian cancer
Uterine corpus cancer
BRCA2-related cancer predisposition
Malignant tumor of breast
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome

pathogenic

Variant DBs

dbSNP ID	rs80359604
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	41	41

Protein conservation

Species	Match	AA	Alignment
Human		220	L	I	V	R	N	E	E	A	S	E	T	V	F	P	H	D	T	T	A	N	V	K	S	Y
mutated	all conserved	220	L	I	V	R	N	E	E	A	S	E	T	I
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	3418	CHAIN		lost
358	381	REGION		lost
362	378	COMPBIAS	Polar residues	lost
445	445	MOD_RES	Phosphoserine	lost
492	492	MOD_RES	Phosphoserine	lost
639	1000	REGION	Interaction with NPM1	lost
755	755	MOD_RES	Phosphoserine	lost
1002	1036	REPEAT	BRCA2	lost
1003	2082	REGION	Interaction with RAD51	lost
1212	1246	REPEAT	BRCA2	lost
1219	1221	STRAND		lost
1228	1230	STRAND		lost
1231	1242	HELIX		lost
1257	1259	STRAND		lost
1338	1781	REGION	Interaction with POLH	lost
1410	1595	REGION	Required	lost
1421	1455	REPEAT	BRCA2	lost
1517	1551	REPEAT	BRCA2	lost
1520	1522	HELIX		lost
1536	1541	HELIX		lost
1542	1546	TURN		lost
1664	1698	REPEAT	BRCA2	lost
1837	1871	REPEAT	BRCA2	lost
1970	1970	MOD_RES	Phosphoserine	lost
1971	2005	REPEAT	BRCA2	lost
2035	2035	MOD_RES	Phosphothreonine	lost
2051	2085	REPEAT	BRCA2	lost
2058	2060	STRAND		lost
2095	2095	MOD_RES	Phosphoserine	lost
2270	2337	REGION	Interaction with HSF2BP	lost
2300	2302	STRAND		lost
2311	2314	HELIX		lost
2315	2317	STRAND		lost
2350	2545	REGION	Interaction with FANCD2	lost
2430	2450	REGION		lost
2481	2832	REGION	Interaction with SEM1	lost
2682	2698	MOTIF	Nuclear export signal	lost
3291	3291	MOD_RES	Phosphoserine	lost
3319	3319	MOD_RES	Phosphoserine	lost
3387	3387	MOD_RES	Phosphothreonine	lost
3393	3418	REGION		lost
3398	3418	COMPBIAS	Basic and acidic residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.015	0.002
	1.392	0.004
	-0.101	0
(flanking)	-0.336	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

13

Strand

1

Original gDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered gDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Original cDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered cDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Wildtype AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL
KKNDRFIASV TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE KYSFVSEVEP
NDTDPLDSNV ANQKPFESGS DKISKEVVPS LACEWSQLTL SGLNGAQMEK IPLLHISSCD
QNISEKDLLD TENKRKKDFL TSENSLPRIS SLPKSEKPLN EETVVNKRDE EQHLESHTDC
ILAVKQAISG TSPVASSFQG IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL
EIHTVCSQKE DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN DSEEPTLSLT
SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL FITPEADSLS CLQEGQCEND
PKSKKVSDIK EEVLAAACHP VQHSKVEYSD TDFQSQKSLL YDHENASTLI LTPTSKDVLS
NLVMISRGKE SYKMSDKLKG NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM
RVASPSRKVQ FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV LAEENKNSVK
QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI SNHSFGGSFR TASNKEIKLS
EHNIKKSKMF FKDIEEQYPT SLACVEIVNT LALDNQKKLS KPQSINTVSA HLQSSVVVSD
CKNSHITPQM LFSKQDFNSN HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS
TFEVPENQMT ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE TSAEVHPISL
SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM TTGTFVEEIT ENYKRNTENE
DNKYTAASRN SHNLEFDGSD SSKNDTVCIH KDETDLLFTD QHNICLKLSG QFMKEGNTQI
KEDLSDLTFL EVAKAQEACH GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK
ESFNKIVNFF DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE QGTSEITSFS
HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN DKNLVSIETV VPPKLLSDNL
CRQTENLKTS KSIFLKVKVH ENVEKETAKS PATCYTNQSP YSVIENSALA FYTSCSRKTS
VSQTSLLEAK KWLREGIFDG QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL
SNSSMSNSYS YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK IVCVSHETIK
KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS EDILHNSLDN DECSTHSHKV
FADIQSEEIL QHNQNMSGLE KVSKISPCDV SLETSDICKC SIGKLHKSVS SANTCGIFST
ASGKSVQVSD ASLQNARQVF SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI
SQKGFSYNVV NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK VSPYLSQFQQ
DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF SDVPVKTNIE VCSTYSKDSE
NYFETEAVEI AKAFMEDDEL TDSKLPSHAT HSLFTCPENE EMVLSNSRIG KRRGEPLILV
GEPSIKRNLL NEFDRIIENQ EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE
RQEIQNPNFT APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN DNEIHQFNKN
NSNQAVAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR QRVFPQPGSL YLAKTSTLPR
ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI KINSKNAESF QFHTEDYFGK ESLWTGKGIQ
LADGGWLIPS NDGKAGKEEF YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK
EFANRCLSPE RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK IILHGAELVG
SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP FPLPLSSLFS DGGNVGCVDV
IIQRAYPIQW MEKTSSGLYI FRNEREEEKE AAKYVEAQQK RLEALFTKIQ EEFEEHEENT
TKPYLPSRAL TRQQVRALQD GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK
QAQIQLEIRK AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSVILSIW RPSSDLYSLL
TEGKRYRIYH LATSKSKSKS ERANIQLAAT KKTQYQQLPV SDEILFQIYQ PREPLHFSKF
LDPDFQPSCS EVDLIGFVVS VVKKTGLAPF VYLSDECYNL LAIKFWIDLN EDIIKPHMLI
AASNLQWRPE SKSGLLTLFA GDFSVFSASP KEGHFQETFN KMKNTVENID ILCNEAENKL
MHILHANDPK WSTPTKDCTS GPYTAQIIPG TGNKLLMSSP NCEIYYQSPL SLCMAKRKSV
STPVSAQMTS KSCKGEKEID DQKNCKKRRA LDFLSRLPLP PPVSPICTFV SPAAQKAFQP
PRSCGTKYET PIKKKELNSP QMTPFKKFNE ISLLESNSIA DEELALINTQ ALLSGSTGEK
QFISVSESTR TAPTSSEDYL RLKRRCTTSL IKEQESSQAS TEECEKNKQD TITTKKYI*

Mutated AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETI SS*

Position of stopcodon in wt / mu CDS

10257 / 669

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

3419 / 223

Position of stopcodon in wt / mu cDNA

10356 / 768

Position of start ATG in wt / mu cDNA

100 / 100

Last intron/exon boundary

9747

Theoretical NMD boundary in CDS

9597

Length of CDS

10257

Coding sequence (CDS) position

656 / 659

cDNA position

755 / 758

gDNA position

14382 / 14385

Chromosomal position

32329467 / 32329470

Speed

0.09 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:

13:32329467CTG>C_5_ENST00000713680

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 9342 (pathogenic)
NMD

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

Analysed issue

Analysis result

Variant

Chr13:32329468_32329469delTG (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000713680.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Deletion

Gene region

CDS

DNA changes

c.657_658delTG
g.14383_14384delTG

AA changes

V220Ifs*4

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Gastric cancer
Wilms tumor 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Fanconi anemia complementation group D1
Malignant tumor of prostate
Medulloblastoma
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast and/or ovarian cancer
Uterine corpus cancer
BRCA2-related cancer predisposition
Malignant tumor of breast
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome

pathogenic

Variant DBs

dbSNP ID	rs80359604
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	41	41

Protein conservation

Species	Match	AA	Alignment
Human		220	L	I	V	R	N	E	E	A	S	E	T	V	F	P	H	D	T	T	A	N	V	K	S	Y
mutated	all conserved	220	L	I	V	R	N	E	E	A	S	E	T	I
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)	-0.015	0.002
	1.392	0.004
	-0.101	0
(flanking)	-0.336	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

13

Strand

1

Original gDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered gDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Original cDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered cDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Wildtype AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL
KKNDRFIASV TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE KYSFVSEVEP
NDTDPLDSNV ANQKPFESGS DKISKEVVPS LACEWSQLTL SGLNGAQMEK IPLLHISSCD
QNISEKDLLD TENKRKKDFL TSENSLPRIS SLPKSEKPLN EETVVNKRDE EQHLESHTDC
ILAVKQAISG TSPVASSFQG IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL
EIHTVCSQKE DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN DSEEPTLSLT
SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL FITPEADSLS CLQEGQCEND
PKSKKVSDIK EEVLAAACHP VQHSKVEYSD TDFQSQKSLL YDHENASTLI LTPTSKDVLS
NLVMISRGKE SYKMSDKLKG NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM
RVASPSRKVQ FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV LAEENKNSVK
QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI SNHSFGGSFR TASNKEIKLS
EHNIKKSKMF FKDIEEQYPT SLACVEIVNT LALDNQKKLS KPQSINTVSA HLQSSVVVSD
CKNSHITPQM LFSKQDFNSN HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS
TFEVPENQMT ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE TSAEVHPISL
SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM TTGTFVEEIT ENYKRNTENE
DNKYTAASRN SHNLEFDGSD SSKNDTVCIH KDETDLLFTD QHNICLKLSG QFMKEGNTQI
KEDLSDLTFL EVAKAQEACH GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK
ESFNKIVNFF DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE QGTSEITSFS
HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN DKNLVSIETV VPPKLLSDNL
CRQTENLKTS KSIFLKVKVH ENVEKETAKS PATCYTNQSP YSVIENSALA FYTSCSRKTS
VSQTSLLEAK KWLREGIFDG QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL
SNSSMSNSYS YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK IVCVSHETIK
KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS EDILHNSLDN DECSTHSHKV
FADIQSEEIL QHNQNMSGLE KVSKISPCDV SLETSDICKC SIGKLHKSVS SANTCGIFST
ASGKSVQVSD ASLQNARQVF SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI
SQKGFSYNVV NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK VSPYLSQFQQ
DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF SDVPVKTNIE VCSTYSKDSE
NYFETEAVEI AKAFMEDDEL TDSKLPSHAT HSLFTCPENE EMVLSNSRIG KRRGEPLILV
GEPSIKRNLL NEFDRIIENQ EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE
RQEIQNPNFT APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN DNEIHQFNKN
NSNQAVAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR QRVFPQPGSL YLAKTSTLPR
ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI KINSKNAESF QFHTEDYFGK ESLWTGKGIQ
LADGGWLIPS NDGKAGKEEF YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK
EFANRCLSPE RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK IILHGAELVG
SPDACTPLEA PESLMLKWME KTSSGLYIFR NEREEEKEAA KYVEAQQKRL EALFTKIQEE
FEEHEENTTK PYLPSRALTR QQVRALQDGA ELYEAVKNAA DPAYLEGYFS EEQLRALNNH
RQMLNDKKQA QIQLEIRKAM ESAEQKEQGL SRDVTTVWKL RIVSYSKKEK DSVILSIWRP
SSDLYSLLTE GKRYRIYHLA TSKSKSKSER ANIQLAATKK TQYQQLPVSD EILFQIYQPR
EPLHFSKFLD PDFQPSCSEV DLIGFVVSVV KKTGLAPFVY LSDECYNLLA IKFWIDLNED
IIKPHMLIAA SNLQWRPESK SGLLTLFAGD FSVFSASPKE GHFQETFNKM KNTVENIDIL
CNEAENKLMH ILHANDPKWS TPTKDCTSGP YTAQIIPGTG NKLLMSSPNC EIYYQSPLSL
CMAKRKSVST PVSAQMTSKS CKGEKEIDDQ KNCKKRRALD FLSRLPLPPP VSPICTFVSP
AAQKAFQPPR SCGTKYETPI KKKELNSPQM TPFKKFNEIS LLESNSIADE ELALINTQAL
LSGSTGEKQF ISVSESTRTA PTSSEDYLRL KRRCTTSLIK EQESSQASTE ECEKNKQDTI
TTKKYI*

Mutated AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETI SS*

Position of stopcodon in wt / mu CDS

10101 / 669

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

3367 / 223

Position of stopcodon in wt / mu cDNA

10300 / 868

Position of start ATG in wt / mu cDNA

200 / 200

Last intron/exon boundary

9691

Theoretical NMD boundary in CDS

9441

Length of CDS

10101

Coding sequence (CDS) position

656 / 659

cDNA position

855 / 858

gDNA position

14382 / 14385

Chromosomal position

32329467 / 32329470

Speed

0.11 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:

13:32329467CTG>C_6_ENST00000680887

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 9342 (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

Chr13:32329468_32329469delTG (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.80, LOF (oe): 0.71, misssense (oe): 0.95, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000680887.1

Genbank transcript ID

UniProt / AlphaMissense peptide

BRCA2_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.657_658delTG
g.14383_14384delTG

AA changes

V220Ifs*4

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Gastric cancer
Wilms tumor 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Fanconi anemia complementation group D1
Malignant tumor of prostate
Medulloblastoma
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast and/or ovarian cancer
Uterine corpus cancer
BRCA2-related cancer predisposition
Malignant tumor of breast
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome

pathogenic

Variant DBs

dbSNP ID	rs80359604
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	41	41

Protein conservation

Species	Match	AA	Alignment
Human		220	L	I	V	R	N	E	E	A	S	E	T	V	F	P	H	D	T	T	A	N	V	K	S	Y
mutated	all conserved	220	L	I	V	R	N	E	E	A	S	E	T	I
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	3418	CHAIN		lost
358	381	REGION		lost
362	378	COMPBIAS	Polar residues	lost
445	445	MOD_RES	Phosphoserine	lost
492	492	MOD_RES	Phosphoserine	lost
639	1000	REGION	Interaction with NPM1	lost
755	755	MOD_RES	Phosphoserine	lost
1002	1036	REPEAT	BRCA2	lost
1003	2082	REGION	Interaction with RAD51	lost
1212	1246	REPEAT	BRCA2	lost
1219	1221	STRAND		lost
1228	1230	STRAND		lost
1231	1242	HELIX		lost
1257	1259	STRAND		lost
1338	1781	REGION	Interaction with POLH	lost
1410	1595	REGION	Required	lost
1421	1455	REPEAT	BRCA2	lost
1517	1551	REPEAT	BRCA2	lost
1520	1522	HELIX		lost
1536	1541	HELIX		lost
1542	1546	TURN		lost
1664	1698	REPEAT	BRCA2	lost
1837	1871	REPEAT	BRCA2	lost
1970	1970	MOD_RES	Phosphoserine	lost
1971	2005	REPEAT	BRCA2	lost
2035	2035	MOD_RES	Phosphothreonine	lost
2051	2085	REPEAT	BRCA2	lost
2058	2060	STRAND		lost
2095	2095	MOD_RES	Phosphoserine	lost
2270	2337	REGION	Interaction with HSF2BP	lost
2300	2302	STRAND		lost
2311	2314	HELIX		lost
2315	2317	STRAND		lost
2350	2545	REGION	Interaction with FANCD2	lost
2430	2450	REGION		lost
2481	2832	REGION	Interaction with SEM1	lost
2682	2698	MOTIF	Nuclear export signal	lost
3291	3291	MOD_RES	Phosphoserine	lost
3319	3319	MOD_RES	Phosphoserine	lost
3387	3387	MOD_RES	Phosphothreonine	lost
3393	3418	REGION		lost
3398	3418	COMPBIAS	Basic and acidic residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.015	0.002
	1.392	0.004
	-0.101	0
(flanking)	-0.336	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

13

Strand

1

Original gDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered gDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Original cDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered cDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Wildtype AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL
KKNDRFIASV TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE KYSFVSEVEP
NDTDPLDSNV ANQKPFESGS DKISKEVVPS LACEWSQLTL SGLNGAQMEK IPLLHISSCD
QNISEKDLLD TENKRKKDFL TSENSLPRIS SLPKSEKPLN EETVVNKRDE EQHLESHTDC
ILAVKQAISG TSPVASSFQG IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL
EIHTVCSQKE DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN DSEEPTLSLT
SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL FITPEADSLS CLQEGQCEND
PKSKKVSDIK EEVLAAACHP VQHSKVEYSD TDFQSQKSLL YDHENASTLI LTPTSKDVLS
NLVMISRGKE SYKMSDKLKG NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM
RVASPSRKVQ FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV LAEENKNSVK
QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI SNHSFGGSFR TASNKEIKLS
EHNIKKSKMF FKDIEEQYPT SLACVEIVNT LALDNQKKLS KPQSINTVSA HLQSSVVVSD
CKNSHITPQM LFSKQDFNSN HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS
TFEVPENQMT ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE TSAEVHPISL
SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM TTGTFVEEIT ENYKRNTENE
DNKYTAASRN SHNLEFDGSD SSKNDTVCIH KDETDLLFTD QHNICLKLSG QFMKEGNTQI
KEDLSDLTFL EVAKAQEACH GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK
ESFNKIVNFF DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE QGTSEITSFS
HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN DKNLVSIETV VPPKLLSDNL
CRQTENLKTS KSIFLKVKVH ENVEKETAKS PATCYTNQSP YSVIENSALA FYTSCSRKTS
VSQTSLLEAK KWLREGIFDG QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL
SNSSMSNSYS YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK IVCVSHETIK
KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS EDILHNSLDN DECSTHSHKV
FADIQSEEIL QHNQNMSGLE KVSKISPCDV SLETSDICKC SIGKLHKSVS SANTCGIFST
ASGKSVQVSD ASLQNARQVF SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI
SQKGFSYNVV NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK VSPYLSQFQQ
DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF SDVPVKTNIE VCSTYSKDSE
NYFETEAVEI AKAFMEDDEL TDSKLPSHAT HSLFTCPENE EMVLSNSRIG KRRGEPLILV
GEPSIKRNLL NEFDRIIENQ EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE
RQEIQNPNFT APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN DNEIHQFNKN
NSNQAVAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR QRVFPQPGSL YLAKTSTLPR
ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI KINSKNAESF QFHTEDYFGK ESLWTGKGIQ
LADGGWLIPS NDGKAGKEEF YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK
EFANRCLSPE RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK IILHGAELVG
SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP FPLPLSSLFS DGGNVGCVDV
IIQRAYPIQW MEKTSSGLYI FRNEREEEKE AAKYVEAQQK RLEALFTKIQ EEFEEHEENT
TKPYLPSRAL TRQQVRALQD GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK
QAQIQLEIRK AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSVILSIW RPSSDLYSLL
TEGKRYRIYH LATSKSKSKS ERANIQLAAT KKTQYQQLPV SDEILFQIYQ PREPLHFSKF
LDPDFQPSCS EVDLIGFVVS VVKKTGLAPF VYLSDECYNL LAIKFWIDLN EDIIKPHMLI
AASNLQWRPE SKSGLLTLFA GDFSVFSASP KEGHFQETFN KMKNTVENID ILCNEAENKL
MHILHANDPK WSTPTKDCTS GPYTAQIIPG TGNKLLMSSP NCEIYYQSPL SLCMAKRKSV
STPVSAQMTS KSCKGEKEID DQKNCKKRRA LDFLSRLPLP PPVSPICTFV SPAAQKAFQP
PRSCGTKYET PIKKKELNSP QMTPFKKFNE ISLLESNSIA DEELALINTQ ALLSGSTGEK
QFISVSESTR TAPTSSEDYL RLKRRCTTSL IKEQESSQAS TEECEKNKQD TITTKKYI*

Mutated AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETI SS*

Position of stopcodon in wt / mu CDS

10257 / 669

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

3419 / 223

Position of stopcodon in wt / mu cDNA

10382 / 794

Position of start ATG in wt / mu cDNA

126 / 126

Last intron/exon boundary

9773

Theoretical NMD boundary in CDS

9597

Length of CDS

10257

Coding sequence (CDS) position

656 / 659

cDNA position

781 / 784

gDNA position

14382 / 14385

Chromosomal position

32329467 / 32329470

Speed

0.11 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:

13:32329467CTG>C_7_ENST00000380152

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Frameshift
Known disease mutation: ClinVar ID 9342 (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

Chr13:32329468_32329469delTG (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.80, LOF (oe): 0.71, misssense (oe): 0.95, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000380152.8

Genbank transcript ID

NM_000059 (exact from MANE), NM_001406719 (by similarity), NM_001406721 (by similarity)

UniProt / AlphaMissense peptide

BRCA2_HUMAN | AlphaMissense: transcript, gene

Variant type

Deletion

Gene region

CDS

DNA changes

c.657_658delTG
g.14383_14384delTG

AA changes

V220Ifs*4

Frameshift

Yes

Length of protein

NMD

Pathogenic variant (ClinVar)

Gastric cancer
Wilms tumor 1
Hereditary cancer-predisposing syndrome
Breast-ovarian cancer, familial, susceptibility to, 1
Glioma susceptibility 3
Pancreatic cancer, susceptibility to, 2
Fanconi anemia complementation group D1
Malignant tumor of prostate
Medulloblastoma
Breast-ovarian cancer, familial, susceptibility to, 2
Familial cancer of breast
Breast and/or ovarian cancer
Uterine corpus cancer
BRCA2-related cancer predisposition
Malignant tumor of breast
BRCA2-related disorder
Hereditary breast ovarian cancer syndrome

pathogenic

Variant DBs

dbSNP ID	rs80359604
gnomAD	homozygous (-/-)	heterozygous	allele carriers
	0	41	41

Protein conservation

Species	Match	AA	Alignment
Human		220	L	I	V	R	N	E	E	A	S	E	T	V	F	P	H	D	T	T	A	N	V	K	S	Y	F	S	N	H	D	E	S	L	K	K	N	D	R	F	I	A	S	V	T	D	S	E	N	T	N	Q	R	E	A	A	S	H	G	F	G	K	T	S	G	N	S	F	K	V	N	S	C	K	D	H	I	G	K	S	M	P	N	V	L	E	D	E	V	Y	E	T	V	V	D	T	S	E	E	D	S	F	S	L	C	F
mutated	all conserved	220	L	I	V	R	N	E	E	A	S	E	T	I
Ptroglodytes	partly conserved	220	L	I	V	R	N	E	E	A	S	E	T	V	F	P	H	D	T	T	A	N	V	K	S	Y	F	S	N	H	D	E	S	L	K	K	N	D	R	F	I	A	S	V	T	D	S	E	N	T	N	Q	R	E	A	T	S	H	G	F	G	K	T	S	G	N	S	F	K	V	N	S	C	K	D	H	T	G	K	S	M	P	N	V	L	E	D	E	V	Y	E	T	V	V
Mmulatta	partly conserved	220	L	I	V	R	N	E	E	A	S	E	T	L	F	P	H	D	T	T	A	N	V	K	S	S	F	S	N	H	D	K	S	L	K	K	N	D	R	C	I	P	S	V	T	D	S	E	N	T	N	Q	R	E	A	T	S	H	R	F	G	R	T	L	G	N	S	F	K	V	N	S	C	K	D	H	I	G	K	S	M	P	N	V	L	E	D	E	V	Y	E	T	V	V
Fcatus	partly conserved	210	L	I	V	R	D	E	E	A	S	A	A	V	F	P	N	D	T	T	A	I	F	K	S	Y	F	C	N	H	D	E	S	L	K	K	N	D	R	F	I	P	S	G	P	D	S	E	N	K	S	Q	R	E	A	K	S	Q	G	L	G	K	M	V	G	N	S	C	D	K	V	N	S	C	K	D	P	F	G	N	S	T	L	N	V	L	E	D	G	V	R	E	R
Mmusculus	partly conserved	212	L	I	A	R	D	E	E	A	R	S	S	V	T	P	A	D	S	P	A	T	L	K	S	C	F	S	N	H	N	E	S	P	Q	K	N	D	R	S	V	P	S	V	I	D	S	E	N	K	N	Q	Q	E	A	F	S	Q	G	L	G	K	M	L	G	D	S	S	G	K	R	N	S	F	K	D	C	L	R	K	P	I	P	N	I	L	E	D	G	-	-	E	T	A
Ggallus	partly conserved	218	I	I	A	R	E	N	D	S	I	S	G	A	K	Q	Q	D	E	R	A	E	IVL	H	N	F	L	S	E	D	D	G	Y	T	A	K	N	D	T	S	L	L	S	I	P	E	T	V	K	L	N	A	R	D	D	I	K	D	L	E	S	E	V	L	D	G	L	F	G	E	T	N	S	F	E	D	S	F	N	L	P	A	E	S	S	G	I
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	partly conserved	228	I	I	A	-	-	-	H	A	N	D	Q	P	S	G	N	K	H	A	A	I	V	Q	S	L	F	P	N	C	E	N	M	E	A	N	N	L	P	P	P	E	T	G	T	Q	N	E	D	R	Q	I	C	G	M	G	S	V	I	Q	K	I	P	E	R	S	S	S	I	D	S	I	I	T	G	L	E	K	P	G	S	C	S	A	S	K	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	3418	CHAIN		lost
358	381	REGION		lost
362	378	COMPBIAS	Polar residues	lost
445	445	MOD_RES	Phosphoserine	lost
492	492	MOD_RES	Phosphoserine	lost
639	1000	REGION	Interaction with NPM1	lost
755	755	MOD_RES	Phosphoserine	lost
1002	1036	REPEAT	BRCA2	lost
1003	2082	REGION	Interaction with RAD51	lost
1212	1246	REPEAT	BRCA2	lost
1219	1221	STRAND		lost
1228	1230	STRAND		lost
1231	1242	HELIX		lost
1257	1259	STRAND		lost
1338	1781	REGION	Interaction with POLH	lost
1410	1595	REGION	Required	lost
1421	1455	REPEAT	BRCA2	lost
1517	1551	REPEAT	BRCA2	lost
1520	1522	HELIX		lost
1536	1541	HELIX		lost
1542	1546	TURN		lost
1664	1698	REPEAT	BRCA2	lost
1837	1871	REPEAT	BRCA2	lost
1970	1970	MOD_RES	Phosphoserine	lost
1971	2005	REPEAT	BRCA2	lost
2035	2035	MOD_RES	Phosphothreonine	lost
2051	2085	REPEAT	BRCA2	lost
2058	2060	STRAND		lost
2095	2095	MOD_RES	Phosphoserine	lost
2270	2337	REGION	Interaction with HSF2BP	lost
2300	2302	STRAND		lost
2311	2314	HELIX		lost
2315	2317	STRAND		lost
2350	2545	REGION	Interaction with FANCD2	lost
2430	2450	REGION		lost
2481	2832	REGION	Interaction with SEM1	lost
2682	2698	MOTIF	Nuclear export signal	lost
3291	3291	MOD_RES	Phosphoserine	lost
3319	3319	MOD_RES	Phosphoserine	lost
3387	3387	MOD_RES	Phosphothreonine	lost
3393	3418	REGION		lost
3398	3418	COMPBIAS	Basic and acidic residues	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-0.015	0.002
	1.392	0.004
	-0.101	0
(flanking)	-0.336	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

13

Strand

1

Original gDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered gDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Original cDNA sequence snippet

AATGAAGAAGCATCTGAAACTGTATTTCCTCATGATACTACT

Altered cDNA sequence snippet

AATGAAGAAGCATCTGAAACTATTTCCTCATGATACTACT

Wildtype AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETV FPHDTTANVK SYFSNHDESL
KKNDRFIASV TDSENTNQRE AASHGFGKTS GNSFKVNSCK DHIGKSMPNV LEDEVYETVV
DTSEEDSFSL CFSKCRTKNL QKVRTSKTRK KIFHEANADE CEKSKNQVKE KYSFVSEVEP
NDTDPLDSNV ANQKPFESGS DKISKEVVPS LACEWSQLTL SGLNGAQMEK IPLLHISSCD
QNISEKDLLD TENKRKKDFL TSENSLPRIS SLPKSEKPLN EETVVNKRDE EQHLESHTDC
ILAVKQAISG TSPVASSFQG IKKSIFRIRE SPKETFNASF SGHMTDPNFK KETEASESGL
EIHTVCSQKE DSLCPNLIDN GSWPATTTQN SVALKNAGLI STLKKKTNKF IYAIHDETSY
KGKKIPKDQK SELINCSAQF EANAFEAPLT FANADSGLLH SSVKRSCSQN DSEEPTLSLT
SSFGTILRKC SRNETCSNNT VISQDLDYKE AKCNKEKLQL FITPEADSLS CLQEGQCEND
PKSKKVSDIK EEVLAAACHP VQHSKVEYSD TDFQSQKSLL YDHENASTLI LTPTSKDVLS
NLVMISRGKE SYKMSDKLKG NNYESDVELT KNIPMEKNQD VCALNENYKN VELLPPEKYM
RVASPSRKVQ FNQNTNLRVI QKNQEETTSI SKITVNPDSE ELFSDNENNF VFQVANERNN
LALGNTKELH ETDLTCVNEP IFKNSTMVLY GDTGDKQATQ VSIKKDLVYV LAEENKNSVK
QHIKMTLGQD LKSDISLNID KIPEKNNDYM NKWAGLLGPI SNHSFGGSFR TASNKEIKLS
EHNIKKSKMF FKDIEEQYPT SLACVEIVNT LALDNQKKLS KPQSINTVSA HLQSSVVVSD
CKNSHITPQM LFSKQDFNSN HNLTPSQKAE ITELSTILEE SGSQFEFTQF RKPSYILQKS
TFEVPENQMT ILKTTSEECR DADLHVIMNA PSIGQVDSSK QFEGTVEIKR KFAGLLKNDC
NKSASGYLTD ENEVGFRGFY SAHGTKLNVS TEALQKAVKL FSDIENISEE TSAEVHPISL
SSSKCHDSVV SMFKIENHND KTVSEKNNKC QLILQNNIEM TTGTFVEEIT ENYKRNTENE
DNKYTAASRN SHNLEFDGSD SSKNDTVCIH KDETDLLFTD QHNICLKLSG QFMKEGNTQI
KEDLSDLTFL EVAKAQEACH GNTSNKEQLT ATKTEQNIKD FETSDTFFQT ASGKNISVAK
ESFNKIVNFF DQKPEELHNF SLNSELHSDI RKNKMDILSY EETDIVKHKI LKESVPVGTG
NQLVTFQGQP ERDEKIKEPT LLGFHTASGK KVKIAKESLD KVKNLFDEKE QGTSEITSFS
HQWAKTLKYR EACKDLELAC ETIEITAAPK CKEMQNSLNN DKNLVSIETV VPPKLLSDNL
CRQTENLKTS KSIFLKVKVH ENVEKETAKS PATCYTNQSP YSVIENSALA FYTSCSRKTS
VSQTSLLEAK KWLREGIFDG QPERINTADY VGNYLYENNS NSTIAENDKN HLSEKQDTYL
SNSSMSNSYS YHSDEVYNDS GYLSKNKLDS GIEPVLKNVE DQKNTSFSKV ISNVKDANAY
PQTVNEDICV EELVTSSSPC KNKNAAIKLS ISNSNNFEVG PPAFRIASGK IVCVSHETIK
KVKDIFTDSF SKVIKENNEN KSKICQTKIM AGCYEALDDS EDILHNSLDN DECSTHSHKV
FADIQSEEIL QHNQNMSGLE KVSKISPCDV SLETSDICKC SIGKLHKSVS SANTCGIFST
ASGKSVQVSD ASLQNARQVF SEIEDSTKQV FSKVLFKSNE HSDQLTREEN TAIRTPEHLI
SQKGFSYNVV NSSAFSGFST ASGKQVSILE SSLHKVKGVL EEFDLIRTEH SLHYSPTSRQ
NVSKILPRVD KRNPEHCVNS EMEKTCSKEF KLSNNLNVEG GSSENNHSIK VSPYLSQFQQ
DKQQLVLGTK VSLVENIHVL GKEQASPKNV KMEIGKTETF SDVPVKTNIE VCSTYSKDSE
NYFETEAVEI AKAFMEDDEL TDSKLPSHAT HSLFTCPENE EMVLSNSRIG KRRGEPLILV
GEPSIKRNLL NEFDRIIENQ EKSLKASKST PDGTIKDRRL FMHHVSLEPI TCVPFRTTKE
RQEIQNPNFT APGQEFLSKS HLYEHLTLEK SSSNLAVSGH PFYQVSATRN EKMRHLITTG
RPTKVFVPPF KTKSHFHRVE QCVRNINLEE NRQKQNIDGH GSDDSKNKIN DNEIHQFNKN
NSNQAVAVTF TKCEEEPLDL ITSLQNARDI QDMRIKKKQR QRVFPQPGSL YLAKTSTLPR
ISLKAAVGGQ VPSACSHKQL YTYGVSKHCI KINSKNAESF QFHTEDYFGK ESLWTGKGIQ
LADGGWLIPS NDGKAGKEEF YRALCDTPGV DPKLISRIWV YNHYRWIIWK LAAMECAFPK
EFANRCLSPE RVLLQLKYRY DTEIDRSRRS AIKKIMERDD TAAKTLVLCV SDIISLSANI
SETSSNKTSS ADTQKVAIIE LTDGWYAVKA QLDPPLLAVL KNGRLTVGQK IILHGAELVG
SPDACTPLEA PESLMLKISA NSTRPARWYT KLGFFPDPRP FPLPLSSLFS DGGNVGCVDV
IIQRAYPIQW MEKTSSGLYI FRNEREEEKE AAKYVEAQQK RLEALFTKIQ EEFEEHEENT
TKPYLPSRAL TRQQVRALQD GAELYEAVKN AADPAYLEGY FSEEQLRALN NHRQMLNDKK
QAQIQLEIRK AMESAEQKEQ GLSRDVTTVW KLRIVSYSKK EKDSVILSIW RPSSDLYSLL
TEGKRYRIYH LATSKSKSKS ERANIQLAAT KKTQYQQLPV SDEILFQIYQ PREPLHFSKF
LDPDFQPSCS EVDLIGFVVS VVKKTGLAPF VYLSDECYNL LAIKFWIDLN EDIIKPHMLI
AASNLQWRPE SKSGLLTLFA GDFSVFSASP KEGHFQETFN KMKNTVENID ILCNEAENKL
MHILHANDPK WSTPTKDCTS GPYTAQIIPG TGNKLLMSSP NCEIYYQSPL SLCMAKRKSV
STPVSAQMTS KSCKGEKEID DQKNCKKRRA LDFLSRLPLP PPVSPICTFV SPAAQKAFQP
PRSCGTKYET PIKKKELNSP QMTPFKKFNE ISLLESNSIA DEELALINTQ ALLSGSTGEK
QFISVSESTR TAPTSSEDYL RLKRRCTTSL IKEQESSQAS TEECEKNKQD TITTKKYI*

Mutated AA sequence

MPIGSKERPT FFEIFKTRCN KADLGPISLN WFEELSSEAP PYNSEPAEES EHKNNNYEPN
LFKTPQRKPS YNQLASTPII FKEQGLTLPL YQSPVKELDK FKLDLGRNVP NSRHKSLRTV
KTKMDQADDV SCPLLNSCLS ESPVVLQCTH VTPQRDKSVV CGSLFHTPKF VKGRQTPKHI
SESLGAEVDP DMSWSSSLAT PPTLSSTVLI VRNEEASETI SS*

Position of stopcodon in wt / mu CDS

10257 / 669

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

3419 / 223

Position of stopcodon in wt / mu cDNA

10456 / 868

Position of start ATG in wt / mu cDNA

200 / 200

Last intron/exon boundary

9847

Theoretical NMD boundary in CDS

9597

Length of CDS

10257

Coding sequence (CDS) position

656 / 659

cDNA position

855 / 858

gDNA position

14382 / 14385

Chromosomal position

32329467 / 32329470

Speed

0.09 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