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rs80359273

From SNPedia

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


Make rs80359273(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32332743
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359273
ebirs80359273
HLIrs80359273
Exacrs80359273
Varsomers80359273
Maprs80359273
PheGenIrs80359273
hapmaprs80359273
1000 genomesrs80359273
hgdprs80359273
ensemblrs80359273
gopubmedrs80359273
geneviewrs80359273
scholarrs80359273
googlers80359273
pharmgkbrs80359273
gwascentralrs80359273
openSNPrs80359273
23andMers80359273
23andMe allrs80359273
SNP Nexus

SNPshotrs80359273
SNPdbers80359273
MSV3drs80359273
GWAS Ctlgrs80359273
Max Magnitude6
rs80359273, also known as 1493delA, c.1265_1265delA and p.Asn422Ilefs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359273(;)
Alt rs80359273(;)
Reference rs80359273(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000013.10:g.32906880delA
CLNSRC Breast Cancer Information Core (BRCA2) Inc.
CLNACC RCV000031316.4, RCV000043770.2, RCV000074512.6, RCV000132260.2,