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rs80359619

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 rs80359619(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32341031
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359619
ebirs80359619
HLIrs80359619
Exacrs80359619
Varsomers80359619
Maprs80359619
PheGenIrs80359619
hapmaprs80359619
1000 genomesrs80359619
hgdprs80359619
ensemblrs80359619
gopubmedrs80359619
geneviewrs80359619
scholarrs80359619
googlers80359619
pharmgkbrs80359619
gwascentralrs80359619
openSNPrs80359619
23andMers80359619
23andMe allrs80359619
SNP Nexus

SNPshotrs80359619
SNPdbers80359619
MSV3drs80359619
GWAS Ctlgrs80359619
Max Magnitude6
rs80359619, also known as 6904delGA, c.6676_6677delGA and p.Glu2226Serfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359619(;)
Alt rs80359619(;)
Reference rs80359619(AG;AG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32915168_32915169delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045014.2, RCV000113626.1, RCV000218089.1,