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rs80359430

From SNPedia

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


Make rs80359430(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338488
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359430
ebirs80359430
HLIrs80359430
Exacrs80359430
Varsomers80359430
Maprs80359430
PheGenIrs80359430
hapmaprs80359430
1000 genomesrs80359430
hgdprs80359430
ensemblrs80359430
gopubmedrs80359430
geneviewrs80359430
scholarrs80359430
googlers80359430
pharmgkbrs80359430
gwascentralrs80359430
openSNPrs80359430
23andMers80359430
23andMe allrs80359430
SNP Nexus

SNPshotrs80359430
SNPdbers80359430
MSV3drs80359430
GWAS Ctlgrs80359430
Max Magnitude6
rs80359430, also known as 4361del4, c.4133_4136delCTCA and p.Thr1378_Gln1379?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359430(;)
Alt rs80359430(;)
Reference rs80359430(CACT;CACT)
Significance Pathogenic
Disease Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 2 Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32912625_32912628delCTCA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044356.3, RCV000113277.1, RCV000220994.1,