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rs80358870

From SNPedia

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


Make rs80358870(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340663
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358870
ebirs80358870
HLIrs80358870
Exacrs80358870
Varsomers80358870
Maprs80358870
PheGenIrs80358870
hapmaprs80358870
1000 genomesrs80358870
hgdprs80358870
ensemblrs80358870
gopubmedrs80358870
geneviewrs80358870
scholarrs80358870
googlers80358870
pharmgkbrs80358870
gwascentralrs80358870
openSNPrs80358870
23andMers80358870
23andMe allrs80358870
SNP Nexus

SNPshotrs80358870
SNPdbers80358870
MSV3drs80358870
GWAS Ctlgrs80358870
Max Magnitude6
rs80358870, also known as S2103X, c.6308C>A and p.Ser2103Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358870(A,G;A,G)
Alt rs80358870(A,G;A,G)
Reference rs80358870(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914800C>A; NC_000013.10:g.32914800C>G
CLNSRC ClinVar Ambry Genetics
CLNACC RCV000044894.2, RCV000113564.1, RCV000217398.1, RCV000129618.2,