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

rs80359322

From SNPedia

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


Make rs80359322(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336447
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359322
ebirs80359322
HLIrs80359322
Exacrs80359322
Varsomers80359322
Maprs80359322
PheGenIrs80359322
hapmaprs80359322
1000 genomesrs80359322
hgdprs80359322
ensemblrs80359322
gopubmedrs80359322
geneviewrs80359322
scholarrs80359322
googlers80359322
pharmgkbrs80359322
gwascentralrs80359322
openSNPrs80359322
23andMers80359322
23andMe allrs80359322
SNP Nexus

SNPshotrs80359322
SNPdbers80359322
MSV3drs80359322
GWAS Ctlgrs80359322
Max Magnitude6
rs80359322, also known as 2320delC, c.2092_2092delC and p.Leu698Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359322(;)
Alt rs80359322(;)
Reference rs80359322(C;C)
Significance Pathogenic
Disease Breast-ovarian cancer Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Familial cancer of breast Hereditary cancer-predisposing syndrome not provided Hereditary breast and ovarian cancer syndrome
Reversed 0
HGVS NC_000013.10:g.32910584delC
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031355.4, RCV000043942.4, RCV000166692.1, RCV000212218.1, RCV000221559.1,