Chr :
chr13
Position :
32340840
Ref Allele :
A
Alt Allele :
G
AAChange refGene :
BRCA2:NM_000059:exon11:c.A6485G:p.K2162R
UCSC :
chr13-32340840-A-G
OMIM :
BRCA2
dbSNP :
rs11571660
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
not_specified
Clinical significance :
Uncertain_significance
SIFT : Tolerated
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Neutral
MutationTaster : Polymorphism
MutationAssessor : Low
FATHMM : Tolerated
PROVEAN : N
VEST3 score : 0.484
VEST3 rankscore : 0.555
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : D
REVEL score : 0.311
REVEL rankscore : 0.637
MutPred score : 0.303
MutPred rankscore : 0.272
CADD : 3.823
DANN score : 0.954
DANN rankscore : 0.264
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -0.813
Eigen PC raw : -0.854
GenoCanyon score : 1
GenoCanyon score rankscore : 0.409
integrated fitCons score : 0.615
integrated fitCons score rankscore : 0.372
integrated confidence value : 0
GERP++ RS : 0.8
GERP++_RS rankscore : 0.177
phyloP100way vertebrate : 1.241
phyloP100way vertebrate rankscore : 0.321
phyloP20way mammalian : 1.007
phyloP20way mammalian rankscore : 0.626
phastCons100way vertebrate : 0.002
phastCons100way vertebrate rankscore : 0.151
phastCons20way mammalian : 0.205
phastCons20way mammalian rankscore : 0.218
SiPhy 29way logOdds : 1.761
SiPhy 29way logOdds rankscore : 0.028
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2050
  • 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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