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rs80358529

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358529(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319283
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358529
ebirs80358529
HLIrs80358529
Exacrs80358529
Varsomers80358529
Maprs80358529
PheGenIrs80358529
hapmaprs80358529
1000 genomesrs80358529
hgdprs80358529
ensemblrs80358529
gopubmedrs80358529
geneviewrs80358529
scholarrs80358529
googlers80358529
pharmgkbrs80358529
gwascentralrs80358529
openSNPrs80358529
23andMers80358529
23andMe allrs80358529
SNP Nexus

SNPshotrs80358529
SNPdbers80358529
MSV3drs80358529
GWAS Ctlgrs80358529
Max Magnitude6
rs80358529, also known as Q92X, c.274C>T and p.Gln92Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358529(T;T)
Alt rs80358529(T;T)
Reference rs80358529(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32893420C>T
CLNSRC ClinVar
CLNACC RCV000031380.4, RCV000044048.4, RCV000212204.1, RCV000215800.1,