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rs80358579

From SNPedia

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


Make rs80358579(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337717
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358579
ebirs80358579
HLIrs80358579
Exacrs80358579
Varsomers80358579
Maprs80358579
PheGenIrs80358579
hapmaprs80358579
1000 genomesrs80358579
hgdprs80358579
ensemblrs80358579
gopubmedrs80358579
geneviewrs80358579
scholarrs80358579
googlers80358579
pharmgkbrs80358579
gwascentralrs80358579
openSNPrs80358579
23andMers80358579
23andMe allrs80358579
SNP Nexus

SNPshotrs80358579
SNPdbers80358579
MSV3drs80358579
GWAS Ctlgrs80358579
Max Magnitude6
rs80358579, also known as S1121X, c.3362C>G and p.Ser1121Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358579(A,G;A,G)
Alt rs80358579(A,G;A,G)
Reference rs80358579(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Familial cancer of breast not provided
Reversed 0
HGVS NC_000013.10:g.32911854C>A; NC_000013.10:g.32911854C>G
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000113165.1, RCV000131099.2, RCV000044181.2, RCV000077302.3, RCV000131100.2, RCV000219700.1,