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rs80359653

From SNPedia

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


Make rs80359653(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32356466
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359653
ebirs80359653
HLIrs80359653
Exacrs80359653
Varsomers80359653
Maprs80359653
PheGenIrs80359653
hapmaprs80359653
1000 genomesrs80359653
hgdprs80359653
ensemblrs80359653
gopubmedrs80359653
geneviewrs80359653
scholarrs80359653
googlers80359653
pharmgkbrs80359653
gwascentralrs80359653
openSNPrs80359653
23andMers80359653
23andMe allrs80359653
SNP Nexus

SNPshotrs80359653
SNPdbers80359653
MSV3drs80359653
GWAS Ctlgrs80359653
Max Magnitude6
rs80359653, also known as 7702delGA, c.7474_7475delGA and p.Asp2492Tyrfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359653(;)
Alt rs80359653(;)
Reference rs80359653(GA;GA)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2
Reversed 0
HGVS NC_000013.10:g.32930603_32930604delGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000045226.2, RCV000113767.1,