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rs80358663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358663(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338577
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358663
ebirs80358663
HLIrs80358663
Exacrs80358663
Varsomers80358663
Maprs80358663
PheGenIrs80358663
hapmaprs80358663
1000 genomesrs80358663
hgdprs80358663
ensemblrs80358663
gopubmedrs80358663
geneviewrs80358663
scholarrs80358663
googlers80358663
pharmgkbrs80358663
gwascentralrs80358663
openSNPrs80358663
23andMers80358663
23andMe allrs80358663
SNP Nexus

SNPshotrs80358663
SNPdbers80358663
MSV3drs80358663
GWAS Ctlgrs80358663
Max Magnitude6
rs80358663, also known as Q1408X, c.4222C>T and p.Gln1408Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358663(T;T)
Alt rs80358663(T;T)
Reference rs80358663(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32912714C>T
CLNSRC ClinVar
CLNACC RCV000031470.4, RCV000044373.3, RCV000215029.1,