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rs80359269

From SNPedia

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


Make rs80359269(-;-)
ReferenceGRCh38 38.1/142
Chromosome13
Position32332709
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359269
dbSNP (classic)rs80359269
ClinGenrs80359269
ebirs80359269
HLIrs80359269
Exacrs80359269
Gnomadrs80359269
Varsomers80359269
LitVarrs80359269
Maprs80359269
PheGenIrs80359269
Biobankrs80359269
1000 genomesrs80359269
hgdprs80359269
ensemblrs80359269
geneviewrs80359269
scholarrs80359269
googlers80359269
pharmgkbrs80359269
gwascentralrs80359269
openSNPrs80359269
23andMers80359269
SNPshotrs80359269
SNPdbers80359269
MSV3drs80359269
GWAS Ctlgrs80359269
Max Magnitude6

rs80359269, also known as 1459delA, c.1231_1231delA and p.Ile411Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.

ClinVar
Risk rs80359269(-;-)
Alt rs80359269(-;-)
Reference Rs80359269(A;A)
Significance Pathogenic
Disease Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32906846delA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000112897.3,