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rs80358452

From SNPedia

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


Make rs80358452(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333148
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358452
ebirs80358452
HLIrs80358452
Exacrs80358452
Varsomers80358452
Maprs80358452
PheGenIrs80358452
hapmaprs80358452
1000 genomesrs80358452
hgdprs80358452
ensemblrs80358452
gopubmedrs80358452
geneviewrs80358452
scholarrs80358452
googlers80358452
pharmgkbrs80358452
gwascentralrs80358452
openSNPrs80358452
23andMers80358452
23andMe allrs80358452
SNP Nexus

SNPshotrs80358452
SNPdbers80358452
MSV3drs80358452
GWAS Ctlgrs80358452
Max Magnitude6
rs80358452, also known as L557X, c.1670T>G and p.Leu557Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358452(G;G)
Alt rs80358452(G;G)
Reference rs80358452(T;T)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32907285T>G
CLNSRC ClinVar
CLNACC RCV000043857.4, RCV000112952.1, RCV000212212.1, RCV000217402.1,