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rs80358711

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358711(G;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339244
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358711
ebirs80358711
HLIrs80358711
Exacrs80358711
Varsomers80358711
Maprs80358711
PheGenIrs80358711
hapmaprs80358711
1000 genomesrs80358711
hgdprs80358711
ensemblrs80358711
gopubmedrs80358711
geneviewrs80358711
scholarrs80358711
googlers80358711
pharmgkbrs80358711
gwascentralrs80358711
openSNPrs80358711
23andMers80358711
23andMe allrs80358711
SNP Nexus

SNPshotrs80358711
SNPdbers80358711
MSV3drs80358711
GWAS Ctlgrs80358711
Max Magnitude6
rs80358711, also known as S1630X, c.4889C>G and p.Ser1630Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358711(A,G;A,G)
Alt rs80358711(A,G;A,G)
Reference rs80358711(C;C)
Significance Pathogenic
Disease Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913381C>A; NC_000013.10:g.32913381C>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000044511.2, RCV000044512.3, RCV000077340.4, RCV000131080.2,