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rs80358593

From SNPedia

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


Make rs80358593(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337810
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358593
ebirs80358593
HLIrs80358593
Exacrs80358593
Varsomers80358593
Maprs80358593
PheGenIrs80358593
hapmaprs80358593
1000 genomesrs80358593
hgdprs80358593
ensemblrs80358593
gopubmedrs80358593
geneviewrs80358593
scholarrs80358593
googlers80358593
pharmgkbrs80358593
gwascentralrs80358593
openSNPrs80358593
23andMers80358593
23andMe allrs80358593
SNP Nexus

SNPshotrs80358593
SNPdbers80358593
MSV3drs80358593
GWAS Ctlgrs80358593
Max Magnitude6
rs80358593, also known as L1152X, c.3455T>G and p.Leu1152Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358593(G;G)
Alt rs80358593(G;G)
Reference rs80358593(T;T)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32911947T>A; NC_000013.10:g.32911947T>G
CLNSRC ClinVar
CLNACC RCV000215781.1, RCV000044201.2, RCV000113180.1,