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rs80358434

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358434(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332934
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358434
ebirs80358434
HLIrs80358434
Exacrs80358434
Varsomers80358434
Maprs80358434
PheGenIrs80358434
hapmaprs80358434
1000 genomesrs80358434
hgdprs80358434
ensemblrs80358434
gopubmedrs80358434
geneviewrs80358434
scholarrs80358434
googlers80358434
pharmgkbrs80358434
gwascentralrs80358434
openSNPrs80358434
23andMers80358434
23andMe allrs80358434
SNP Nexus

SNPshotrs80358434
SNPdbers80358434
MSV3drs80358434
GWAS Ctlgrs80358434
Max Magnitude6
rs80358434, also known as Q486X, c.1456C>T and p.Gln486Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358434(T;T)
Alt rs80358434(T;T)
Reference rs80358434(C;C)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32907071C>T
CLNSRC ClinVar
CLNACC RCV000043810.2, RCV000112924.1, RCV000219957.1,