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rs80359276

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 rs80359276(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332774
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359276
ebirs80359276
HLIrs80359276
Exacrs80359276
Varsomers80359276
Maprs80359276
PheGenIrs80359276
hapmaprs80359276
1000 genomesrs80359276
hgdprs80359276
ensemblrs80359276
gopubmedrs80359276
geneviewrs80359276
scholarrs80359276
googlers80359276
pharmgkbrs80359276
gwascentralrs80359276
openSNPrs80359276
23andMers80359276
23andMe allrs80359276
SNP Nexus

SNPshotrs80359276
SNPdbers80359276
MSV3drs80359276
GWAS Ctlgrs80359276
Max Magnitude6
rs80359276, also known as 1524delGA, c.1296_1297delGA and p.Glu432_Asn433GluGlnfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359276(;)
Alt rs80359276(;)
Reference rs80359276(AG;AG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32906911_32906912delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031317.4, RCV000043775.2, RCV000162900.1,