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rs80359478

From SNPedia

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


Make rs80359478(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339397
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359478
ebirs80359478
HLIrs80359478
Exacrs80359478
Varsomers80359478
Maprs80359478
PheGenIrs80359478
hapmaprs80359478
1000 genomesrs80359478
hgdprs80359478
ensemblrs80359478
gopubmedrs80359478
geneviewrs80359478
scholarrs80359478
googlers80359478
pharmgkbrs80359478
gwascentralrs80359478
openSNPrs80359478
23andMers80359478
23andMe allrs80359478
SNP Nexus

SNPshotrs80359478
SNPdbers80359478
MSV3drs80359478
GWAS Ctlgrs80359478
Max Magnitude6
rs80359478, also known as 5270delTG, c.5042_5043delTG and p.Val1681Glufs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359478(;)
Alt rs80359478(;)
Reference rs80359478(TG;TG)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations not provided
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations not provided
Reversed 0
HGVS NC_000013.10:g.32913534_32913535delTG
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031521.4, RCV000044543.3, RCV000217031.1, RCV000221298.1,