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rs80358515

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80358515(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position32319259
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80358515
ebirs80358515
HLIrs80358515
Exacrs80358515
Varsomers80358515
Maprs80358515
PheGenIrs80358515
hapmaprs80358515
1000 genomesrs80358515
hgdprs80358515
ensemblrs80358515
gopubmedrs80358515
geneviewrs80358515
scholarrs80358515
googlers80358515
pharmgkbrs80358515
gwascentralrs80358515
openSNPrs80358515
23andMers80358515
23andMe allrs80358515
SNP Nexus

SNPshotrs80358515
SNPdbers80358515
MSV3drs80358515
GWAS Ctlgrs80358515
Max Magnitude6
rs80358515, also known as Q84X, c.250C>T and p.Gln84Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80358515(T;T)
Alt rs80358515(T;T)
Reference rs80358515(C;C)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations not provided Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Tumor susceptibility linked to germline BAP1 mutations not provided Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32893396C>G; NC_000013.10:g.32893396C>T
CLNSRC ClinVar
CLNACC RCV000222485.1, RCV000044007.5, RCV000077281.4, RCV000195353.1,