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rs80358620

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358620(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338140
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358620
ebirs80358620
HLIrs80358620
Exacrs80358620
Varsomers80358620
Maprs80358620
PheGenIrs80358620
hapmaprs80358620
1000 genomesrs80358620
hgdprs80358620
ensemblrs80358620
gopubmedrs80358620
geneviewrs80358620
scholarrs80358620
googlers80358620
pharmgkbrs80358620
gwascentralrs80358620
openSNPrs80358620
23andMers80358620
23andMe allrs80358620
SNP Nexus

SNPshotrs80358620
SNPdbers80358620
MSV3drs80358620
GWAS Ctlgrs80358620
Max Magnitude6
rs80358620, also known as S1262X, c.3785C>G and p.Ser1262Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358620(G;G)
Alt rs80358620(G;G)
Reference rs80358620(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32912277C>G
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044266.2, RCV000113219.2, RCV000129108.2,