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rs80359050

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;T) 6 BRCA2 variant considered pathogenic for breast cancer
(T;T) 0 common in clinvar


Make rs80359050(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32363289
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359050
ebirs80359050
HLIrs80359050
Exacrs80359050
Varsomers80359050
Maprs80359050
PheGenIrs80359050
hapmaprs80359050
1000 genomesrs80359050
hgdprs80359050
ensemblrs80359050
gopubmedrs80359050
geneviewrs80359050
scholarrs80359050
googlers80359050
pharmgkbrs80359050
gwascentralrs80359050
openSNPrs80359050
23andMers80359050
23andMe allrs80359050
SNP Nexus

SNPshotrs80359050
SNPdbers80359050
MSV3drs80359050
GWAS Ctlgrs80359050
Max Magnitude6
rs80359050, also known as L2696X, c.8087T>A and p.Leu2696Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359050(A;A)
Alt rs80359050(A;A)
Reference rs80359050(T;T)
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.32937426T>A; NC_000013.10:g.32937426T>G
CLNSRC ClinVar
CLNACC RCV000045418.2, RCV000113870.1, RCV000172807.1, RCV000218050.1,