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

rs80359406

From SNPedia

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


Make rs80359406(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32338209
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359406
ebirs80359406
HLIrs80359406
Exacrs80359406
Varsomers80359406
Maprs80359406
PheGenIrs80359406
hapmaprs80359406
1000 genomesrs80359406
hgdprs80359406
ensemblrs80359406
gopubmedrs80359406
geneviewrs80359406
scholarrs80359406
googlers80359406
pharmgkbrs80359406
gwascentralrs80359406
openSNPrs80359406
23andMers80359406
23andMe allrs80359406
SNP Nexus

SNPshotrs80359406
SNPdbers80359406
MSV3drs80359406
GWAS Ctlgrs80359406
Max Magnitude6
rs80359406, also known as 4082delA, c.3854_3854delA and p.Glu1285=fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359406(;)
Alt rs80359406(;)
Reference rs80359406(A;A)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32912352delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044288.4, RCV000077316.4, RCV000131539.1, RCV000212232.1, RCV000214509.1,