Chr :
chr13
Position :
32363187
Ref Allele :
C
Alt Allele :
T
AAChange refGene :
BRCA2:NM_000059:exon18:c.C7985T:p.T2662M
UCSC :
chr13-32363187-C-T
OMIM :
BRCA2
dbSNP :
rs431825362
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

Clinical annotations are based on clinvar version 2019-03-05.

Disease condition(s) :
Hereditary_breast_and_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided
Clinical significance :
Conflicting_interpretations_of_pathogenicity
SIFT : Tolerated
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Neutral
MutationTaster : Polymorphism
MutationAssessor : Neutral
FATHMM : Deleterious
PROVEAN : N
VEST3 score : 0.384
VEST3 rankscore : 0.457
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : D
REVEL score : 0.243
REVEL rankscore : 0.554
MutPred score : -
MutPred rankscore : -
CADD : 22
DANN score : 0.696
DANN rankscore : 0.087
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -0.728
Eigen PC raw : -0.516
GenoCanyon score : 0.999
GenoCanyon score rankscore : 0.379
integrated fitCons score : 0.615
integrated fitCons score rankscore : 0.372
integrated confidence value : 0
GERP++ RS : 4.93
GERP++_RS rankscore : 0.643
phyloP100way vertebrate : 4.753
phyloP100way vertebrate rankscore : 0.616
phyloP20way mammalian : 0.119
phyloP20way mammalian rankscore : 0.209
phastCons100way vertebrate : 0.97
phastCons100way vertebrate rankscore : 0.34
phastCons20way mammalian : 0.96
phastCons20way mammalian rankscore : 0.441
SiPhy 29way logOdds : 10.893
SiPhy 29way logOdds rankscore : 0.46
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2042
  • Homozygous :    0
  • Heterozygous :    1
1000 Genome
All AFR AMR EAS SAS EUR
- - - - - -
gnomAD
All AFR AMR EAS SAS AMI ASJ FIN NFE OTH
- - - - - - - - - -
GME
All NWA NEA AP Israel SD TP CA
- - - - - - - -
Esp6500
All
-

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