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

rs80359338

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359338(-;-)
Make rs80359338(A;A)
ReferenceGRCh38 38.1/141
Chromosome13
Position32336943
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359338
ebirs80359338
HLIrs80359338
Exacrs80359338
Varsomers80359338
Maprs80359338
PheGenIrs80359338
hapmaprs80359338
1000 genomesrs80359338
hgdprs80359338
ensemblrs80359338
gopubmedrs80359338
geneviewrs80359338
scholarrs80359338
googlers80359338
pharmgkbrs80359338
gwascentralrs80359338
openSNPrs80359338
23andMers80359338
23andMe allrs80359338
SNP Nexus

SNPshotrs80359338
SNPdbers80359338
MSV3drs80359338
GWAS Ctlgrs80359338
Max Magnitude6
rs80359338, also known as 2816insA, c.2588_2589insA and p.Asn863?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359338(A;A)
Alt rs80359338(A;A)
Reference rs80359338(;)
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.32911080dupA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031374.7, RCV000044019.3, RCV000218358.1,