Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359473

From SNPedia

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


Make rs80359473(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339291
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359473
ebirs80359473
HLIrs80359473
Exacrs80359473
Varsomers80359473
Maprs80359473
PheGenIrs80359473
hapmaprs80359473
1000 genomesrs80359473
hgdprs80359473
ensemblrs80359473
gopubmedrs80359473
geneviewrs80359473
scholarrs80359473
googlers80359473
pharmgkbrs80359473
gwascentralrs80359473
openSNPrs80359473
23andMers80359473
23andMe allrs80359473
SNP Nexus

SNPshotrs80359473
SNPdbers80359473
MSV3drs80359473
GWAS Ctlgrs80359473
Max Magnitude6
rs80359473, also known as 5164del4, c.4936_4939delGAAA and p.Glu1646_Thr1647?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359473(;)
Alt rs80359473(;)
Reference rs80359473(AAAG;AAAG)
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.32913428_32913431delGAAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031516.5, RCV000074531.6, RCV000131071.2, RCV000198074.3,