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rs80359343

From SNPedia

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


Make rs80359343(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32316486
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359343
ebirs80359343
HLIrs80359343
Exacrs80359343
Varsomers80359343
Maprs80359343
PheGenIrs80359343
hapmaprs80359343
1000 genomesrs80359343
hgdprs80359343
ensemblrs80359343
gopubmedrs80359343
geneviewrs80359343
scholarrs80359343
googlers80359343
pharmgkbrs80359343
gwascentralrs80359343
openSNPrs80359343
23andMers80359343
23andMe allrs80359343
SNP Nexus

SNPshotrs80359343
SNPdbers80359343
MSV3drs80359343
GWAS Ctlgrs80359343
Max Magnitude6
rs80359343, also known as 254delC, c.26_26delC and p.Pro9Glnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359343(;)
Alt rs80359343(;)
Reference rs80359343(C;C)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32890623delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044041.4, RCV000077284.5, RCV000132408.2, RCV000215325.1,