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rs80359335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;A) 6 BRCA2 variant considered pathogenic for breast cancer
Make rs80359335(-;-)
Make rs80359335(A;A)
ReferenceGRCh38 38.1/142
Chromosome13
Position32336937
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359335
ebirs80359335
HLIrs80359335
Exacrs80359335
Varsomers80359335
Maprs80359335
PheGenIrs80359335
hapmaprs80359335
1000 genomesrs80359335
hgdprs80359335
ensemblrs80359335
gopubmedrs80359335
geneviewrs80359335
scholarrs80359335
googlers80359335
pharmgkbrs80359335
gwascentralrs80359335
openSNPrs80359335
23andMers80359335
23andMe allrs80359335
SNP Nexus

SNPshotrs80359335
SNPdbers80359335
MSV3drs80359335
GWAS Ctlgrs80359335
Max Magnitude6
rs80359335, also known as 2810insA, c.2582_2583insA and p.Gln861?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359335(A;A)
Alt rs80359335(A;A)
Reference rs80359335(;)
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,