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rs80359302

From SNPedia

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


Make rs80359302(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32333233
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359302
ebirs80359302
HLIrs80359302
Exacrs80359302
Varsomers80359302
Maprs80359302
PheGenIrs80359302
hapmaprs80359302
1000 genomesrs80359302
hgdprs80359302
ensemblrs80359302
gopubmedrs80359302
geneviewrs80359302
scholarrs80359302
googlers80359302
pharmgkbrs80359302
gwascentralrs80359302
openSNPrs80359302
23andMers80359302
23andMe allrs80359302
SNP Nexus

SNPshotrs80359302
SNPdbers80359302
MSV3drs80359302
GWAS Ctlgrs80359302
Max Magnitude6
rs80359302, also known as 1983del5, c.1755_1759delGAAAA and p.Lys585_Thr587?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359302(;)
Alt rs80359302(;)
Reference rs80359302(AAAAG;AAAAG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000013.10:g.32907370_32907374delGAAAA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031335.5, RCV000074514.6, RCV000131055.3, RCV000212215.1,