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rs80359316

From SNPedia

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


Make rs80359316(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336284
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359316
ebirs80359316
HLIrs80359316
Exacrs80359316
Varsomers80359316
Maprs80359316
PheGenIrs80359316
hapmaprs80359316
1000 genomesrs80359316
hgdprs80359316
ensemblrs80359316
gopubmedrs80359316
geneviewrs80359316
scholarrs80359316
googlers80359316
pharmgkbrs80359316
gwascentralrs80359316
openSNPrs80359316
23andMers80359316
23andMe allrs80359316
SNP Nexus

SNPshotrs80359316
SNPdbers80359316
MSV3drs80359316
GWAS Ctlgrs80359316
Max Magnitude6
rs80359316, also known as 2157delG, c.1929_1929delG and p.Val643=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359316(;)
Alt rs80359316(;)
Reference rs80359316(G;G)
Significance Pathogenic
Disease Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32910421delG
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031350.5, RCV000043926.5, RCV000131475.2, RCV000195352.4,