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rs80358665

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358665(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338640
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358665
ebirs80358665
HLIrs80358665
Exacrs80358665
Varsomers80358665
Maprs80358665
PheGenIrs80358665
hapmaprs80358665
1000 genomesrs80358665
hgdprs80358665
ensemblrs80358665
gopubmedrs80358665
geneviewrs80358665
scholarrs80358665
googlers80358665
pharmgkbrs80358665
gwascentralrs80358665
openSNPrs80358665
23andMers80358665
23andMe allrs80358665
SNP Nexus

SNPshotrs80358665
SNPdbers80358665
MSV3drs80358665
GWAS Ctlgrs80358665
Max Magnitude6
rs80358665, also known as Q1429X, c.4285C>T and p.Gln1429Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358665(T;T)
Alt rs80358665(T;T)
Reference rs80358665(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.32912777C>T
CLNSRC ClinVar
CLNACC RCV000044388.2, RCV000113290.1, RCV000219511.1,