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rs80359477

From SNPedia

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


Make rs80359477(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339390
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359477
ebirs80359477
HLIrs80359477
Exacrs80359477
Varsomers80359477
Maprs80359477
PheGenIrs80359477
hapmaprs80359477
1000 genomesrs80359477
hgdprs80359477
ensemblrs80359477
gopubmedrs80359477
geneviewrs80359477
scholarrs80359477
googlers80359477
pharmgkbrs80359477
gwascentralrs80359477
openSNPrs80359477
23andMers80359477
23andMe allrs80359477
SNP Nexus

SNPshotrs80359477
SNPdbers80359477
MSV3drs80359477
GWAS Ctlgrs80359477
Max Magnitude6
rs80359477, also known as 5263delA, c.5035_5035delA and p.Thr1679Leufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359477(;)
Alt rs80359477(;)
Reference rs80359477(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1
Reversed 0
HGVS NC_000013.10:g.32913527delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031520.4, RCV000044542.2, RCV000164040.1, RCV000210136.1,