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rs80359234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359234(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332439
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359234
ebirs80359234
HLIrs80359234
Exacrs80359234
Varsomers80359234
Maprs80359234
PheGenIrs80359234
hapmaprs80359234
1000 genomesrs80359234
hgdprs80359234
ensemblrs80359234
gopubmedrs80359234
geneviewrs80359234
scholarrs80359234
googlers80359234
pharmgkbrs80359234
gwascentralrs80359234
openSNPrs80359234
23andMers80359234
23andMe allrs80359234
SNP Nexus

SNPshotrs80359234
SNPdbers80359234
MSV3drs80359234
GWAS Ctlgrs80359234
Max Magnitude6
rs80359234, also known as Q321X, c.961C>T and p.Gln321Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359234(T;T)
Alt rs80359234(T;T)
Reference rs80359234(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32906576C>T
CLNSRC ClinVar
CLNACC RCV000045869.2, RCV000112867.1, RCV000217571.1,