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rs80358538

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358538(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337236
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358538
ebirs80358538
HLIrs80358538
Exacrs80358538
Varsomers80358538
Maprs80358538
PheGenIrs80358538
hapmaprs80358538
1000 genomesrs80358538
hgdprs80358538
ensemblrs80358538
gopubmedrs80358538
geneviewrs80358538
scholarrs80358538
googlers80358538
pharmgkbrs80358538
gwascentralrs80358538
openSNPrs80358538
23andMers80358538
23andMe allrs80358538
SNP Nexus

SNPshotrs80358538
SNPdbers80358538
MSV3drs80358538
GWAS Ctlgrs80358538
Max Magnitude6
rs80358538, also known as Q961X, c.2881C>T and p.Gln961Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358538(G,T;G,T)
Alt rs80358538(G,T;G,T)
Reference rs80358538(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911373C>G; NC_000013.10:g.32911373C>T
CLNSRC ClinVar
CLNACC RCV000164804.1, RCV000044080.2, RCV000077288.3,