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rs80359058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359058(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363342
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359058
ebirs80359058
HLIrs80359058
Exacrs80359058
Varsomers80359058
Maprs80359058
PheGenIrs80359058
hapmaprs80359058
1000 genomesrs80359058
hgdprs80359058
ensemblrs80359058
gopubmedrs80359058
geneviewrs80359058
scholarrs80359058
googlers80359058
pharmgkbrs80359058
gwascentralrs80359058
openSNPrs80359058
23andMers80359058
23andMe allrs80359058
SNP Nexus

SNPshotrs80359058
SNPdbers80359058
MSV3drs80359058
GWAS Ctlgrs80359058
Max Magnitude6
rs80359058, also known as Q2714X, c.8140C>T and p.Gln2714Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359058(G,T;G,T)
Alt rs80359058(G,T;G,T)
Reference rs80359058(C;C)
Significance Pathogenic
Disease not specified Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN not specified Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32937479C>G; NC_000013.10:g.32937479C>T
CLNSRC ClinVar
CLNACC RCV000160148.1, RCV000045429.2, RCV000113875.1,