Chr :
chr13
Position :
32333036
Ref Allele :
T
Alt Allele :
G
AAChange refGene :
BRCA2:NM_000059:exon10:c.T1558G:p.F520V
UCSC :
chr13-32333036-T-G
OMIM :
BRCA2
dbSNP :
rs80358441
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 : Probably Damaging
Polyphen2 HVAR : Possibly damaginig
LRT : Neutral
MutationTaster : Polymorphism
MutationAssessor : Medium
FATHMM : Tolerated
PROVEAN : N
VEST3 score : 0.746
VEST3 rankscore : 0.742
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : D
REVEL score : 0.139
REVEL rankscore : 0.379
MutPred score : 0.229
MutPred rankscore : 0.156
CADD : 12.93
DANN score : 0.901
DANN rankscore : 0.188
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : -0.272
Eigen PC raw : -0.416
GenoCanyon score : 0.998
GenoCanyon score rankscore : 0.359
integrated fitCons score : 0.776
integrated fitCons score rankscore : 0.995
integrated confidence value : 0
GERP++ RS : 3.04
GERP++_RS rankscore : 0.34
phyloP100way vertebrate : 2.426
phyloP100way vertebrate rankscore : 0.441
phyloP20way mammalian : 1.061
phyloP20way mammalian rankscore : 0.807
phastCons100way vertebrate : 0.105
phastCons100way vertebrate rankscore : 0.227
phastCons20way mammalian : 0.008
phastCons20way mammalian rankscore : 0.104
SiPhy 29way logOdds : 5.826
SiPhy 29way logOdds rankscore : 0.177
IndiGen Frequencies
  • Allele Count :    2
  • Allele Frequency :    0.0010
  • Allele Number :    2048
  • Homozygous :    0
  • Heterozygous :    2
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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