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rs80358472

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358472(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333303
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358472
ebirs80358472
HLIrs80358472
Exacrs80358472
Varsomers80358472
Maprs80358472
PheGenIrs80358472
hapmaprs80358472
1000 genomesrs80358472
hgdprs80358472
ensemblrs80358472
gopubmedrs80358472
geneviewrs80358472
scholarrs80358472
googlers80358472
pharmgkbrs80358472
gwascentralrs80358472
openSNPrs80358472
23andMers80358472
23andMe allrs80358472
SNP Nexus

SNPshotrs80358472
SNPdbers80358472
MSV3drs80358472
GWAS Ctlgrs80358472
Max Magnitude6
rs80358472, also known as Q609X, c.1825C>T and p.Gln609Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358472(G,T;G,T)
Alt rs80358472(G,T;G,T)
Reference rs80358472(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Familial cancer of breast
Reversed 0
HGVS NC_000013.10:g.32907440C>G; NC_000013.10:g.32907440C>T
CLNSRC Ambry Genetics ClinVar
CLNACC RCV000043902.3, RCV000112982.1, RCV000130263.2, RCV000043903.2, RCV000112983.1,