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rs80358807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358807(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340146
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358807
ebirs80358807
HLIrs80358807
Exacrs80358807
Varsomers80358807
Maprs80358807
PheGenIrs80358807
hapmaprs80358807
1000 genomesrs80358807
hgdprs80358807
ensemblrs80358807
gopubmedrs80358807
geneviewrs80358807
scholarrs80358807
googlers80358807
pharmgkbrs80358807
gwascentralrs80358807
openSNPrs80358807
23andMers80358807
23andMe allrs80358807
SNP Nexus

SNPshotrs80358807
SNPdbers80358807
MSV3drs80358807
GWAS Ctlgrs80358807
Max Magnitude6
rs80358807, also known as Q1931X, c.5791C>T and p.Gln1931Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358807(T;T)
Alt rs80358807(T;T)
Reference rs80358807(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914283C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000044758.2, RCV000077361.3, RCV000131105.2,