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rs80359684

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;GACA) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359684(-;-)
Make rs80359684(GACA;GACA)
ReferenceGRCh38 38.1/142
Chromosome13
Position32362536
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359684
ebirs80359684
HLIrs80359684
Exacrs80359684
Varsomers80359684
Maprs80359684
PheGenIrs80359684
hapmaprs80359684
1000 genomesrs80359684
hgdprs80359684
ensemblrs80359684
gopubmedrs80359684
geneviewrs80359684
scholarrs80359684
googlers80359684
pharmgkbrs80359684
gwascentralrs80359684
openSNPrs80359684
23andMers80359684
23andMe allrs80359684
SNP Nexus

SNPshotrs80359684
SNPdbers80359684
MSV3drs80359684
GWAS Ctlgrs80359684
Max Magnitude6
rs80359684, also known as 8047ins4, c.7819_7820insGACA and p.Thr2607?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359684(GACA;GACA)
Alt rs80359684(GACA;GACA)
Reference rs80359684(;)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32936670_32936673dupGACA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000113830.1,