MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000682755
Querying Taster for transcript #2: ENST00000259008
Querying Taster for transcript #3: ENST00000683039
Querying Taster for transcript #4: ENST00000682453
Querying Taster for transcript #5: ENST00000682989
Querying Taster for transcript #6: ENST00000577598
Querying Taster for transcript #7: ENST00000584322
Querying Taster for transcript #8: ENST00000683381
Querying Taster for transcript #9: ENST00000577913
Querying Taster for transcript #10: ENST00000682369
Querying Taster for transcript #11: ENST00000683672
MT speed 0.64 s - this script 3.159926 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000259008(MANE Select)	BRIP1	Deleterious	89\|11	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000584322	BRIP1	Deleterious	97\|3	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD
ENST00000683381	BRIP1	Deleterious	97\|3	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD
ENST00000682755	BRIP1	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD
ENST00000682989	BRIP1	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD
ENST00000683039	BRIP1	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000682453	BRIP1	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000577598	BRIP1	Deleterious	98\|2	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD Protein features (might be) affected
ENST00000577913	BRIP1	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD
ENST00000682369	BRIP1	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Heterozygous in gnomAD
ENST00000683672	BRIP1	Deleterious	197\|3	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD

MutationT@ster 2025

Variant:

17:61859862G>C_2_ENST00000259008

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 89|11 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 0.85, LOF (oe): 0.70, misssense (oe): 0.82, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000259008.7

Genbank transcript ID

NM_032043 (exact from MANE)

UniProt / AlphaMissense peptide

FANCJ_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
Ptroglodytes	all identical	47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C
Mmulatta	not conserved	47	L	N	S	K	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-
Fcatus	all identical	47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	V	A	L	L	C
Mmusculus	all identical	47	L	N	S	S	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C
Ggallus	all identical	47	L	N	N	R	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C
Trubripes	all identical	84	L	N	T	G	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	all identical	114	L	K	N	S	Q	N	V	L	G	E	S	P	T	G	S	G	K	T	M	A	L	L	A
Xtropicalis	all identical	47	L	N	C	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C

Protein features

Start (aa)	End (aa)	Feature	Details
1	1249	CHAIN		lost
11	442	DOMAIN	Helicase ATP-binding	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK*

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK*

Position of stopcodon in wt / mu CDS

3750 / 3750

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

1250 / 1250

Position of stopcodon in wt / mu cDNA

4025 / 4025

Position of start ATG in wt / mu cDNA

276 / 276

Last intron/exon boundary

3180

Theoretical NMD boundary in CDS

2854

Length of CDS

3750

Coding sequence (CDS) position

139

cDNA position

414

gDNA position

3698

Chromosomal position

61859862

Speed

0.04 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_7_ENST00000584322

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 0.91, LOF (oe): 0.75, misssense (oe): 0.81, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000584322.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
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)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQLTSATAE GTNGYAQSWV SYSKMADAAL TTATDETVDI YPRNLLSPST
ALVLHSTEVE CY*

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQLTSATAE GTNGYAQSWV SYSKMADAAL TTATDETVDI YPRNLLSPST
ALVLHSTEVE CY*

Position of stopcodon in wt / mu CDS

2559 / 2559

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

853 / 853

Position of stopcodon in wt / mu cDNA

2633 / 2633

Position of start ATG in wt / mu cDNA

75 / 75

Last intron/exon boundary

2453

Theoretical NMD boundary in CDS

2328

Length of CDS

2559

Coding sequence (CDS) position

139

cDNA position

213

gDNA position

3698

Chromosomal position

61859862

Speed

0.04 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_8_ENST00000683381

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 97|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 0.91, LOF (oe): 0.75, misssense (oe): 0.81, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000683381.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
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)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQIMSSK FIIYVVACAR
VSSLKVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL
LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV
CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQLTSATAE GTNGYAQSWV SYSKMADAAL
TTATDETVDI YPRNLLSPST ALVLHSTEVE CY*

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQIMSSK FIIYVVACAR
VSSLKVWVGT IGSGPKGRNL CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL
LEKLKERWLS TGLWHNLELV KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV
CRGKVSEGLD FSDDNARAVI TIGIPFPNVK DLQLTSATAE GTNGYAQSWV SYSKMADAAL
TTATDETVDI YPRNLLSPST ALVLHSTEVE CY*

Position of stopcodon in wt / mu CDS

2619 / 2619

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

873 / 873

Position of stopcodon in wt / mu cDNA

2775 / 2775

Position of start ATG in wt / mu cDNA

157 / 157

Last intron/exon boundary

2595

Theoretical NMD boundary in CDS

2388

Length of CDS

2619

Coding sequence (CDS) position

139

cDNA position

295

gDNA position

3698

Chromosomal position

61859862

Speed

0.04 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_1_ENST00000682755

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 0.81, LOF (oe): 0.66, misssense (oe): 0.82, synonymous (oe): 0.84 ? (gnomAD)

Ensembl transcript ID

ENST00000682755.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
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)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNMDLN LKEQVVILDE AHNIEDCARE SASYSVTEVQ LRFARDELDS MVNNNIRKKD
HEPLRAVCCS LINWLEANAE YLVERDYESA CKIWSGNEML LTLHKMGITT ATFPILQGHF
SAVLQKEEKI SPIYGKEEAR EVPVISASTQ IMLKGLFMVL DYLFRQNSRF ADDYKIAIQQ
TYSWTNQIDI SDKNGLLVLP KNKKRSRQKT AVHVLNFWCL NPAVAFSDIN GKVQTIVLTS
GTLSPMKSFS SELGVTFTIQ LEANHIIKNS QVWVGTIGSG PKGRNLCATF QNTETFEFQD
EVGALLLSVC QTVSQGILCF LPSYKLLEKL KERWLSTGLW HNLELVKTVI VEPQGGEKTN
FDELLQVYYD AIKYKGEKDG ALLVAVCRGK VSEGLDFSDD NARAVITIGI PFPNVKDLQV
ELKRQYNDHH SKLRGLLPGR QWYEIQAYRA LNQALGRCIR HRNDWGALIL VDDRFRNNPS
RYISGLSKWV RQQIQHHSTF ESALESLAEF SKKHQKVLNV SIKDRTNIQD NESTLEVTSL
KYSTSPYLLE AASHLSPENF VEDEAKICVQ ELQCPKIITK NSPLPSSIIS RKEKNDPVFL
EEAGKAEKIV ISRSTSPTFN KQTKRVSWSS FNSLGQYFTG KIPKATPELG SSENSASSPP
RFKTEKMESK TVLPFTDKCE SSNLTVNTSF GSCPQSETII SSLKIDATLT RKNHSEHPLC
SEEALDPDIE LSLVSEEDKQ STSNRDFETE AEDESIYFTP ELYDPEDTDE EKNDLAETDR
GNRLANNSDC ILAKDLFEIR TIKEVDSARE VKAEDCIDTK LNGILHIEES KIDDIDGNVK
TTWINELELG KTHEIEIKNF KPSPSKNKGM FPGFK*

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNMDLN LKEQVVILDE AHNIEDCARE SASYSVTEVQ LRFARDELDS MVNNNIRKKD
HEPLRAVCCS LINWLEANAE YLVERDYESA CKIWSGNEML LTLHKMGITT ATFPILQGHF
SAVLQKEEKI SPIYGKEEAR EVPVISASTQ IMLKGLFMVL DYLFRQNSRF ADDYKIAIQQ
TYSWTNQIDI SDKNGLLVLP KNKKRSRQKT AVHVLNFWCL NPAVAFSDIN GKVQTIVLTS
GTLSPMKSFS SELGVTFTIQ LEANHIIKNS QVWVGTIGSG PKGRNLCATF QNTETFEFQD
EVGALLLSVC QTVSQGILCF LPSYKLLEKL KERWLSTGLW HNLELVKTVI VEPQGGEKTN
FDELLQVYYD AIKYKGEKDG ALLVAVCRGK VSEGLDFSDD NARAVITIGI PFPNVKDLQV
ELKRQYNDHH SKLRGLLPGR QWYEIQAYRA LNQALGRCIR HRNDWGALIL VDDRFRNNPS
RYISGLSKWV RQQIQHHSTF ESALESLAEF SKKHQKVLNV SIKDRTNIQD NESTLEVTSL
KYSTSPYLLE AASHLSPENF VEDEAKICVQ ELQCPKIITK NSPLPSSIIS RKEKNDPVFL
EEAGKAEKIV ISRSTSPTFN KQTKRVSWSS FNSLGQYFTG KIPKATPELG SSENSASSPP
RFKTEKMESK TVLPFTDKCE SSNLTVNTSF GSCPQSETII SSLKIDATLT RKNHSEHPLC
SEEALDPDIE LSLVSEEDKQ STSNRDFETE AEDESIYFTP ELYDPEDTDE EKNDLAETDR
GNRLANNSDC ILAKDLFEIR TIKEVDSARE VKAEDCIDTK LNGILHIEES KIDDIDGNVK
TTWINELELG KTHEIEIKNF KPSPSKNKGM FPGFK*

Position of stopcodon in wt / mu CDS

3528 / 3528

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

1176 / 1176

Position of stopcodon in wt / mu cDNA

3558 / 3558

Position of start ATG in wt / mu cDNA

31 / 31

Last intron/exon boundary

2713

Theoretical NMD boundary in CDS

2632

Length of CDS

3528

Coding sequence (CDS) position

139

cDNA position

169

gDNA position

3698

Chromosomal position

61859862

Speed

0.05 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_5_ENST00000682989

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 0.90, LOF (oe): 0.74, misssense (oe): 0.81, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000682989.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
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)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RSHSVAHVGV
QWYNLSSLQP RLPGFKGFSH LSLPSNWDHR *

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RSHSVAHVGV
QWYNLSSLQP RLPGFKGFSH LSLPSNWDHR *

Position of stopcodon in wt / mu CDS

2613 / 2613

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

871 / 871

Position of stopcodon in wt / mu cDNA

2856 / 2856

Position of start ATG in wt / mu cDNA

244 / 244

Last intron/exon boundary

2852

Theoretical NMD boundary in CDS

2558

Length of CDS

2613

Coding sequence (CDS) position

139

cDNA position

382

gDNA position

3698

Chromosomal position

61859862

Speed

0.27 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_3_ENST00000683039

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 0.85, LOF (oe): 0.70, misssense (oe): 0.82, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000683039.1

Genbank transcript ID

UniProt / AlphaMissense peptide

FANCJ_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
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	1249	CHAIN		lost
11	442	DOMAIN	Helicase ATP-binding	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK*

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK*

Position of stopcodon in wt / mu CDS

3750 / 3750

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

1250 / 1250

Position of stopcodon in wt / mu cDNA

4072 / 4072

Position of start ATG in wt / mu cDNA

323 / 323

Last intron/exon boundary

3227

Theoretical NMD boundary in CDS

2854

Length of CDS

3750

Coding sequence (CDS) position

139

cDNA position

461

gDNA position

3698

Chromosomal position

61859862

Speed

0.04 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_4_ENST00000682453

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 0.85, LOF (oe): 0.70, misssense (oe): 0.82, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000682453.1

Genbank transcript ID

UniProt / AlphaMissense peptide

FANCJ_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
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	1249	CHAIN		lost
11	442	DOMAIN	Helicase ATP-binding	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK*

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK*

Position of stopcodon in wt / mu CDS

3750 / 3750

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

1250 / 1250

Position of stopcodon in wt / mu cDNA

3863 / 3863

Position of start ATG in wt / mu cDNA

114 / 114

Last intron/exon boundary

3018

Theoretical NMD boundary in CDS

2854

Length of CDS

3750

Coding sequence (CDS) position

139

cDNA position

252

gDNA position

3698

Chromosomal position

61859862

Speed

0.04 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_6_ENST00000577598

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 98|2 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 0.89, LOF (oe): 0.74, misssense (oe): 0.81, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000577598.5

Genbank transcript ID

UniProt / AlphaMissense peptide

FANCJ_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
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	1249	CHAIN		lost
11	442	DOMAIN	Helicase ATP-binding	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKSM KSSSHLPLIE KSFIIFSEMI FIWV*

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKSM KSSSHLPLIE KSFIIFSEMI FIWV*

Position of stopcodon in wt / mu CDS

2985 / 2985

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

995 / 995

Position of stopcodon in wt / mu cDNA

2985 / 2985

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

2575

Theoretical NMD boundary in CDS

2524

Length of CDS

2985

Coding sequence (CDS) position

139

cDNA position

139

gDNA position

3698

Chromosomal position

61859862

Speed

0.04 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_9_ENST00000577913

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 1.15, LOF (oe): 0.79, misssense (oe): 0.87, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000577913.2

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
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)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP FRFLTFCLKK *

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP FRFLTFCLKK *

Position of stopcodon in wt / mu CDS

663 / 663

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

221 / 221

Position of stopcodon in wt / mu cDNA

965 / 965

Position of start ATG in wt / mu cDNA

303 / 303

Last intron/exon boundary

929

Theoretical NMD boundary in CDS

576

Length of CDS

663

Coding sequence (CDS) position

139

cDNA position

441

gDNA position

3698

Chromosomal position

61859862

Speed

0.03 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_10_ENST00000682369

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Heterozygous in gnomAD

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 1.15, LOF (oe): 0.79, misssense (oe): 0.87, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000682369.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.139C>G
g.3698C>G

AA changes

AAE:	P47A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

Species	Match	AA	Alignment
Human		47	L	N	S	K	Q	H	C	L	L	E	S	P	T	G	S	G	K	S	L	A	L	L	C	S
mutated	not conserved	47	L	N	S	K	Q	H	C	L	L	E	S	A	T	G	S	G	K	S	L	A	L	L	C
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)	8.458	1
	8.458	1
(flanking)	0.778	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

17

Strand

-1

Original gDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered cDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Wildtype AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP FRFLTFCLKK *

Mutated AA sequence

MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESATGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP FRFLTFCLKK *

Position of stopcodon in wt / mu CDS

663 / 663

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

221 / 221

Position of stopcodon in wt / mu cDNA

780 / 780

Position of start ATG in wt / mu cDNA

118 / 118

Last intron/exon boundary

744

Theoretical NMD boundary in CDS

576

Length of CDS

663

Coding sequence (CDS) position

139

cDNA position

256

gDNA position

3698

Chromosomal position

61859862

Speed

0.03 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

Back to summary table

MutationT@ster 2025

Variant:

17:61859862G>C_11_ENST00000683672

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 197|3 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr17:61859862G>C (GRCh38)

Gene symbol

BRIP1

Gene constraints

LOEUF: 1.84, LOF (oe): 1.06, misssense (oe): 1.00, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000683672.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.-92-2631C>G
g.3698C>G

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs28903098
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	1	571	572

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.458	1
	8.458	1
(flanking)	0.778	1

?

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

AACATTGTTTGTTGGAGAGTCCCACAGGAAGTGGAAAAAGC

Altered gDNA sequence snippet

AACATTGTTTGTTGGAGAGTGCCACAGGAAGTGGAAAAAGC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MNQGTSRHFN YPSTPPSERN GTSSTCQD*

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

303 / 303

Last intron/exon boundary

384

Theoretical NMD boundary in CDS

31

Length of CDS

87

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3698

Chromosomal position

61859862

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

Back to summary table