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rs80358838

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358838(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32340380
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358838
ebirs80358838
HLIrs80358838
Exacrs80358838
Varsomers80358838
Maprs80358838
PheGenIrs80358838
hapmaprs80358838
1000 genomesrs80358838
hgdprs80358838
ensemblrs80358838
gopubmedrs80358838
geneviewrs80358838
scholarrs80358838
googlers80358838
pharmgkbrs80358838
gwascentralrs80358838
openSNPrs80358838
23andMers80358838
23andMe allrs80358838
SNP Nexus

SNPshotrs80358838
SNPdbers80358838
MSV3drs80358838
GWAS Ctlgrs80358838
Max Magnitude6
rs80358838, also known as Q2009X, c.6025C>T and p.Gln2009Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358838(T;T)
Alt rs80358838(T;T)
Reference rs80358838(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.32914517C>T
CLNSRC ClinVar
CLNACC RCV000044821.2, RCV000113520.1, RCV000213281.1,