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rs80359351

From SNPedia

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


Make rs80359351(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32337161
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359351
ebirs80359351
HLIrs80359351
Exacrs80359351
Varsomers80359351
Maprs80359351
PheGenIrs80359351
hapmaprs80359351
1000 genomesrs80359351
hgdprs80359351
ensemblrs80359351
gopubmedrs80359351
geneviewrs80359351
scholarrs80359351
googlers80359351
pharmgkbrs80359351
gwascentralrs80359351
openSNPrs80359351
23andMers80359351
23andMe allrs80359351
SNP Nexus

SNPshotrs80359351
SNPdbers80359351
MSV3drs80359351
GWAS Ctlgrs80359351
Max Magnitude6
rs80359351, also known as 3034del4, c.2806_2809delAAAC and p.Lys936_Gln937?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359351(;)
Alt rs80359351(;)
Reference rs80359351(AAAC;AAAC)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer not specified
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided Breast-ovarian cancer, familial 1 not specified
Reversed 0
HGVS NC_000013.10:g.32911300_32911303delACAA
CLNSRC Breast Cancer Information Core (BRCA2) Inc. OMIM Allelic Variant
CLNACC RCV000009907.7, RCV000044064.8, RCV000131102.3, RCV000160273.2, RCV000210161.1, RCV000238794.1,