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rs80358806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358806(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340128
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358806
ebirs80358806
HLIrs80358806
Exacrs80358806
Varsomers80358806
Maprs80358806
PheGenIrs80358806
hapmaprs80358806
1000 genomesrs80358806
hgdprs80358806
ensemblrs80358806
gopubmedrs80358806
geneviewrs80358806
scholarrs80358806
googlers80358806
pharmgkbrs80358806
gwascentralrs80358806
openSNPrs80358806
23andMers80358806
23andMe allrs80358806
SNP Nexus

SNPshotrs80358806
SNPdbers80358806
MSV3drs80358806
GWAS Ctlgrs80358806
Max Magnitude6
rs80358806, also known as Q1925X, c.5773C>T and p.Gln1925Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358806(G,T;G,T)
Alt rs80358806(G,T;G,T)
Reference rs80358806(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Hereditary cancer-predisposing syndrome Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32914265C>G; NC_000013.10:g.32914265C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000129311.2, RCV000044750.2, RCV000113482.1,