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rs81002798

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs81002798(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32370558
GeneBRCA2
is asnp
is mentioned by
dbSNPrs81002798
ebirs81002798
HLIrs81002798
Exacrs81002798
Varsomers81002798
Maprs81002798
PheGenIrs81002798
hapmaprs81002798
1000 genomesrs81002798
hgdprs81002798
ensemblrs81002798
gopubmedrs81002798
geneviewrs81002798
scholarrs81002798
googlers81002798
pharmgkbrs81002798
gwascentralrs81002798
openSNPrs81002798
23andMers81002798
23andMe allrs81002798
SNP Nexus

SNPshotrs81002798
SNPdbers81002798
MSV3drs81002798
GWAS Ctlgrs81002798
Max Magnitude6

rs81002798, also known as c.8487+1G>A, represents a rare mutation in the BRCA2 gene.

The minor/rare allele is considered pathogenic for breast cancer in ClinVar.


ClinVar
Risk rs81002798(A,T;A,T)
Alt rs81002798(A,T;A,T)
Reference rs81002798(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer not specified Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not specified Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32944695G>A; NC_000013.10:g.32944695G>T
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000077441.5, RCV000122367.1, RCV000131086.2, RCV000212276.1, RCV000220501.2, RCV000031745.3,