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rs80358740

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358740(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339514
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358740
ebirs80358740
HLIrs80358740
Exacrs80358740
Varsomers80358740
Maprs80358740
PheGenIrs80358740
hapmaprs80358740
1000 genomesrs80358740
hgdprs80358740
ensemblrs80358740
gopubmedrs80358740
geneviewrs80358740
scholarrs80358740
googlers80358740
pharmgkbrs80358740
gwascentralrs80358740
openSNPrs80358740
23andMers80358740
23andMe allrs80358740
SNP Nexus

SNPshotrs80358740
SNPdbers80358740
MSV3drs80358740
GWAS Ctlgrs80358740
Max Magnitude6
rs80358740, also known as S1720X, c.5159C>G and p.Ser1720Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358740(A,G;A,G)
Alt rs80358740(A,G;A,G)
Reference rs80358740(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Breast-ovarian cancer Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 2 Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32913651C>A; NC_000013.10:g.32913651C>G
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000131919.2, RCV000238884.1, RCV000044570.2, RCV000113390.1,