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rs80359680

From SNPedia

Merged intors80359677
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
dbSNP (classic)rs80359680
ClinGenrs80359680
ebirs80359680
HLIrs80359680
Exacrs80359680
Gnomadrs80359680
Varsomers80359680
LitVarrs80359680
Maprs80359680
PheGenIrs80359680
Biobankrs80359680
1000 genomesrs80359680
hgdprs80359680
ensemblrs80359680
geneviewrs80359680
scholarrs80359680
googlers80359680
pharmgkbrs80359680
gwascentralrs80359680
openSNPrs80359680
23andMers80359680
SNPshotrs80359680
SNPdbers80359680
MSV3drs80359680
GWAS Ctlgrs80359680
StatusMerged into rs80359677
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
Alt
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 RCV000031701.6, RCV000045311.5, RCV000131854.3, RCV000203632.2,