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rs80359484

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;ATGT) 6 BRCA2 variant considered pathogenic for breast cancer
(TATG;TATG) 0 common in clinvar
Make rs80359484(-;-)
Make rs80359484(ATGT;ATGT)
ReferenceGRCh38 38.1/142
Chromosome13
Position32339484
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359484
ebirs80359484
HLIrs80359484
Exacrs80359484
Varsomers80359484
Maprs80359484
PheGenIrs80359484
hapmaprs80359484
1000 genomesrs80359484
hgdprs80359484
ensemblrs80359484
gopubmedrs80359484
geneviewrs80359484
scholarrs80359484
googlers80359484
pharmgkbrs80359484
gwascentralrs80359484
openSNPrs80359484
23andMers80359484
23andMe allrs80359484
SNP Nexus

SNPshotrs80359484
SNPdbers80359484
MSV3drs80359484
GWAS Ctlgrs80359484
Max Magnitude6
rs80359484, also known as 5357del4, c.5129_5132delATGT and p.Tyr1710_Val1711?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359484(;)
Alt rs80359484(;)
Reference rs80359484(TATG;TATG)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast-ovarian cancer not provided
Variation info
Gene BRCA2
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 2 Hereditary cancer-predisposing syndrome Breast-ovarian cancer, familial 1 not provided
Reversed 0
HGVS NC_000013.10:g.32913622_32913625delTGTA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044563.2, RCV000077345.5, RCV000131075.2, RCV000210164.1, RCV000215028.1,