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rs80359716

From SNPedia

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


Make rs80359716(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32371005
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359716
ebirs80359716
HLIrs80359716
Exacrs80359716
Varsomers80359716
Maprs80359716
PheGenIrs80359716
hapmaprs80359716
1000 genomesrs80359716
hgdprs80359716
ensemblrs80359716
gopubmedrs80359716
geneviewrs80359716
scholarrs80359716
googlers80359716
pharmgkbrs80359716
gwascentralrs80359716
openSNPrs80359716
23andMers80359716
23andMe allrs80359716
SNP Nexus

SNPshotrs80359716
SNPdbers80359716
MSV3drs80359716
GWAS Ctlgrs80359716
Max Magnitude6
rs80359716, also known as 8765delAG, c.8537_8538delAG and p.Glu2846Glyfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359716(;)
Alt rs80359716(;)
Reference rs80359716(AG;AG)
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.32945142_32945143delAG
CLNSRC Breast Cancer Information Core (BRCA2) OMIM Allelic Variant
CLNACC RCV000009915.12, RCV000045550.8, RCV000131085.2, RCV000160308.2,