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rs80359680

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 rs80359680(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32331015
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359680
ebirs80359680
HLIrs80359680
Exacrs80359680
Varsomers80359680
Maprs80359680
PheGenIrs80359680
hapmaprs80359680
1000 genomesrs80359680
hgdprs80359680
ensemblrs80359680
gopubmedrs80359680
geneviewrs80359680
scholarrs80359680
googlers80359680
pharmgkbrs80359680
gwascentralrs80359680
openSNPrs80359680
23andMers80359680
23andMe allrs80359680
SNP Nexus

SNPshotrs80359680
SNPdbers80359680
MSV3drs80359680
GWAS Ctlgrs80359680
Max Magnitude6
rs80359680, also known as 1006delGA, c.778_779delGA and p.Glu260Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359680(;)
Alt rs80359680(;)
Reference rs80359680(AG;AG)
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.32905152_32905153delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031701.5, RCV000045311.5, RCV000131854.2, RCV000203632.2,