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

rs80359741

From SNPedia

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


Make rs80359741(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32379822
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359741
ebirs80359741
HLIrs80359741
Exacrs80359741
Varsomers80359741
Maprs80359741
PheGenIrs80359741
hapmaprs80359741
1000 genomesrs80359741
hgdprs80359741
ensemblrs80359741
gopubmedrs80359741
geneviewrs80359741
scholarrs80359741
googlers80359741
pharmgkbrs80359741
gwascentralrs80359741
openSNPrs80359741
23andMers80359741
23andMe allrs80359741
SNP Nexus

SNPshotrs80359741
SNPdbers80359741
MSV3drs80359741
GWAS Ctlgrs80359741
Max Magnitude6
rs80359741, also known as 9254del5, c.9026_9030delATCAT and p.Tyr3009_His3010?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359741(;)
Alt rs80359741(;)
Reference rs80359741(TATCA;TATCA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32953959_32953963delATCAT
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031787.5, RCV000045692.3, RCV000214145.1,