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rs80359485

From SNPedia

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


Make rs80359485(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32339485
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359485
ebirs80359485
HLIrs80359485
Exacrs80359485
Varsomers80359485
Maprs80359485
PheGenIrs80359485
hapmaprs80359485
1000 genomesrs80359485
hgdprs80359485
ensemblrs80359485
gopubmedrs80359485
geneviewrs80359485
scholarrs80359485
googlers80359485
pharmgkbrs80359485
gwascentralrs80359485
openSNPrs80359485
23andMers80359485
23andMe allrs80359485
SNP Nexus

SNPshotrs80359485
SNPdbers80359485
MSV3drs80359485
GWAS Ctlgrs80359485
Max Magnitude6
rs80359485, also known as 5358del4, c.5130_5133delTGTA and p.Tyr1710_Val1711?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359485(;)
Alt rs80359485(;)
Reference rs80359485(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,