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rs80358476

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358476(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333333
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358476
ebirs80358476
HLIrs80358476
Exacrs80358476
Varsomers80358476
Maprs80358476
PheGenIrs80358476
hapmaprs80358476
1000 genomesrs80358476
hgdprs80358476
ensemblrs80358476
gopubmedrs80358476
geneviewrs80358476
scholarrs80358476
googlers80358476
pharmgkbrs80358476
gwascentralrs80358476
openSNPrs80358476
23andMers80358476
23andMe allrs80358476
SNP Nexus

SNPshotrs80358476
SNPdbers80358476
MSV3drs80358476
GWAS Ctlgrs80358476
Max Magnitude6
rs80358476, also known as Q619X, c.1855C>T and p.Gln619Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358476(T;T)
Alt rs80358476(T;T)
Reference rs80358476(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32907470C>T
CLNSRC ClinVar
CLNACC RCV000043911.5, RCV000112988.1, RCV000216070.1,