Chr :
chr13
Position :
32337291
Ref Allele :
T
Alt Allele :
C
AAChange refGene :
BRCA2:NM_000059:exon11:c.T2936C:p.I979T
UCSC :
chr13-32337291-T-C
OMIM :
BRCA2
dbSNP :
rs876659200
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
Clinical significance :
Uncertain_significance
SIFT : Tolerated
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Neutral
MutationTaster : Polymorphism
MutationAssessor : Low
FATHMM : Tolerated
PROVEAN : N
VEST3 score : 0.725
VEST3 rankscore : 0.724
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : T
REVEL score : 0.196
REVEL rankscore : 0.483
MutPred score : 0.323
MutPred rankscore : 0.305
CADD : 0.01
DANN score : 0.448
DANN rankscore : 0.034
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -1.117
Eigen PC raw : -1.143
GenoCanyon score : 0.772
GenoCanyon score rankscore : 0.237
integrated fitCons score : 0.651
integrated fitCons score rankscore : 0.465
integrated confidence value : 0
GERP++ RS : -0.749
GERP++_RS rankscore : 0.105
phyloP100way vertebrate : -1.623
phyloP100way vertebrate rankscore : 0.021
phyloP20way mammalian : 0.82
phyloP20way mammalian rankscore : 0.335
phastCons100way vertebrate : 0
phastCons100way vertebrate rankscore : 0.063
phastCons20way mammalian : 0.015
phastCons20way mammalian rankscore : 0.124
SiPhy 29way logOdds : 6.737
SiPhy 29way logOdds rankscore : 0.225
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2054
  • 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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