Chr :
chr13
Position :
32332383
Ref Allele :
C
Alt Allele :
G
AAChange refGene :
BRCA2:NM_000059:exon10:c.C905G:p.T302S
UCSC :
chr13-32332383-C-G
OMIM :
BRCA2
dbSNP :
rs80359158
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
Breast-ovarian_cancer,_familial_2
Clinical significance :
Uncertain_significance
SIFT : Deleterious
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Neutral
MutationTaster : Polymorphism
MutationAssessor : Low
FATHMM : Tolerated
PROVEAN : N
VEST3 score : 0.526
VEST3 rankscore : 0.643
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : D
REVEL score : 0.196
REVEL rankscore : 0.483
MutPred score : 0.091
MutPred rankscore : 0.011
CADD : 2.074
DANN score : 0.832
DANN rankscore : 0.141
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -0.823
Eigen PC raw : -0.857
GenoCanyon score : 0.987
GenoCanyon score rankscore : 0.312
integrated fitCons score : 0.651
integrated fitCons score rankscore : 0.465
integrated confidence value : 0
GERP++ RS : 0.425
GERP++_RS rankscore : 0.156
phyloP100way vertebrate : 0.109
phyloP100way vertebrate rankscore : 0.151
phyloP20way mammalian : -0.919
phyloP20way mammalian rankscore : 0.025
phastCons100way vertebrate : 0.27
phastCons100way vertebrate rankscore : 0.248
phastCons20way mammalian : 0.341
phastCons20way mammalian rankscore : 0.244
SiPhy 29way logOdds : 4.751
SiPhy 29way logOdds rankscore : 0.123
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2044
  • 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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