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rs80358561

From SNPedia

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


Make rs80358561(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319323
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358561
ebirs80358561
HLIrs80358561
Exacrs80358561
Varsomers80358561
Maprs80358561
PheGenIrs80358561
hapmaprs80358561
1000 genomesrs80358561
hgdprs80358561
ensemblrs80358561
gopubmedrs80358561
geneviewrs80358561
scholarrs80358561
googlers80358561
pharmgkbrs80358561
gwascentralrs80358561
openSNPrs80358561
23andMers80358561
23andMe allrs80358561
SNP Nexus

SNPshotrs80358561
SNPdbers80358561
MSV3drs80358561
GWAS Ctlgrs80358561
Max Magnitude6
rs80358561, also known as L105X, c.314T>G and p.Leu105Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358561(G;G)
Alt rs80358561(G;G)
Reference rs80358561(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.32893460T>G
CLNSRC ClinVar
CLNACC RCV000044126.2, RCV000077293.4, RCV000219806.1,