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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
dbSNP (classic)rs80358838
ClinGenrs80358838
ebirs80358838
HLIrs80358838
Exacrs80358838
Gnomadrs80358838
Varsomers80358838
LitVarrs80358838
Maprs80358838
PheGenIrs80358838
Biobankrs80358838
1000 genomesrs80358838
hgdprs80358838
ensemblrs80358838
geneviewrs80358838
scholarrs80358838
googlers80358838
pharmgkbrs80358838
gwascentralrs80358838
openSNPrs80358838
23andMers80358838
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 Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32914517C>T
CLNSRC ClinVar
CLNACC RCV000044821.3, RCV000113520.3, RCV000213281.1,