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rs81002858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 likely to be a BRCA2 variant pathogenic for breast cancer
Make rs81002858(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326497
GeneBRCA2
is asnp
is mentioned by
dbSNPrs81002858
ebirs81002858
HLIrs81002858
Exacrs81002858
Varsomers81002858
Maprs81002858
PheGenIrs81002858
hapmaprs81002858
1000 genomesrs81002858
hgdprs81002858
ensemblrs81002858
gopubmedrs81002858
geneviewrs81002858
scholarrs81002858
googlers81002858
pharmgkbrs81002858
gwascentralrs81002858
openSNPrs81002858
23andMers81002858
23andMe allrs81002858
SNP Nexus

SNPshotrs81002858
SNPdbers81002858
MSV3drs81002858
GWAS Ctlgrs81002858
Max Magnitude5

rs81002858, also known as c.517-2A>G, represents a BRCA2 gene mutation considered likely to be pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs81002858(C,G;C,G)
Alt rs81002858(C,G;C,G)
Reference rs81002858(A;A)
Significance Other
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32900634A>C; NC_000013.10:g.32900634A>G
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000144186.1, RCV000044589.2, RCV000077347.3, RCV000162897.1, RCV000221055.1,