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

rs80359449

From SNPedia

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


Make rs80359449(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32338809
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359449
ebirs80359449
HLIrs80359449
Exacrs80359449
Varsomers80359449
Maprs80359449
PheGenIrs80359449
hapmaprs80359449
1000 genomesrs80359449
hgdprs80359449
ensemblrs80359449
gopubmedrs80359449
geneviewrs80359449
scholarrs80359449
googlers80359449
pharmgkbrs80359449
gwascentralrs80359449
openSNPrs80359449
23andMers80359449
23andMe allrs80359449
SNP Nexus

SNPshotrs80359449
SNPdbers80359449
MSV3drs80359449
GWAS Ctlgrs80359449
Max Magnitude6
rs80359449, also known as 4682del4, c.4454_4457delTAGT and p.Ile1485_Val1486?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359449(;)
Alt rs80359449(;)
Reference rs80359449(TAGT;TAGT)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32912948_32912951delGTTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044417.4, RCV000083106.4, RCV000212235.1, RCV000222405.1,