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

rs80359493

From SNPedia

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


Make rs80359493(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339568
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359493
ebirs80359493
HLIrs80359493
Exacrs80359493
Varsomers80359493
Maprs80359493
PheGenIrs80359493
hapmaprs80359493
1000 genomesrs80359493
hgdprs80359493
ensemblrs80359493
gopubmedrs80359493
geneviewrs80359493
scholarrs80359493
googlers80359493
pharmgkbrs80359493
gwascentralrs80359493
openSNPrs80359493
23andMers80359493
23andMe allrs80359493
SNP Nexus

SNPshotrs80359493
SNPdbers80359493
MSV3drs80359493
GWAS Ctlgrs80359493
Max Magnitude6
rs80359493, also known as 5441del4, c.5213_5216delCTTA and p.Thr1738_Tyr1739?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359493(;)
Alt rs80359493(;)
Reference rs80359493(TACT;TACT)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32913705_32913708delCTTA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031532.4, RCV000044609.3, RCV000221073.1, RCV000234881.1,