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rs80359492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;G) 6 BRCA2 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs80359492(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32326500
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359492
ebirs80359492
HLIrs80359492
Exacrs80359492
Varsomers80359492
Maprs80359492
PheGenIrs80359492
hapmaprs80359492
1000 genomesrs80359492
hgdprs80359492
ensemblrs80359492
gopubmedrs80359492
geneviewrs80359492
scholarrs80359492
googlers80359492
pharmgkbrs80359492
gwascentralrs80359492
openSNPrs80359492
23andMers80359492
23andMe allrs80359492
SNP Nexus

SNPshotrs80359492
SNPdbers80359492
MSV3drs80359492
GWAS Ctlgrs80359492
Max Magnitude6
rs80359492, also known as 746delG, c.518_518delG and p.Gly173Valfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359492(;)
Alt rs80359492(;)
Reference rs80359492(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32900637delG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031530.4, RCV000044599.2, RCV000222906.1,