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rs80359730

From SNPedia

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


Make rs80359730(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379466
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359730
ebirs80359730
HLIrs80359730
Exacrs80359730
Varsomers80359730
Maprs80359730
PheGenIrs80359730
hapmaprs80359730
1000 genomesrs80359730
hgdprs80359730
ensemblrs80359730
gopubmedrs80359730
geneviewrs80359730
scholarrs80359730
googlers80359730
pharmgkbrs80359730
gwascentralrs80359730
openSNPrs80359730
23andMers80359730
23andMe allrs80359730
SNP Nexus

SNPshotrs80359730
SNPdbers80359730
MSV3drs80359730
GWAS Ctlgrs80359730
Max Magnitude6
rs80359730, also known as 9132delC, c.8904_8904delC and p.Thr2968=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359730(;)
Alt rs80359730(;)
Reference rs80359730(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32953603delC
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031775.5, RCV000045650.3, RCV000131370.3, RCV000216861.1,