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rs80359357

From SNPedia

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


Make rs80359357(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32337191
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359357
ebirs80359357
HLIrs80359357
Exacrs80359357
Varsomers80359357
Maprs80359357
PheGenIrs80359357
hapmaprs80359357
1000 genomesrs80359357
hgdprs80359357
ensemblrs80359357
gopubmedrs80359357
geneviewrs80359357
scholarrs80359357
googlers80359357
pharmgkbrs80359357
gwascentralrs80359357
openSNPrs80359357
23andMers80359357
23andMe allrs80359357
SNP Nexus

SNPshotrs80359357
SNPdbers80359357
MSV3drs80359357
GWAS Ctlgrs80359357
Max Magnitude6
rs80359357, also known as 3064delGA, c.2836_2837delGA and p.Asp946Phefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359357(;)
Alt rs80359357(;)
Reference rs80359357(AG;AG)
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.32911328_32911329delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044071.4, RCV000113101.2, RCV000162914.1,