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rs80359451

From SNPedia

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


Make rs80359451(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338826
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359451
ebirs80359451
HLIrs80359451
Exacrs80359451
Varsomers80359451
Maprs80359451
PheGenIrs80359451
hapmaprs80359451
1000 genomesrs80359451
hgdprs80359451
ensemblrs80359451
gopubmedrs80359451
geneviewrs80359451
scholarrs80359451
googlers80359451
pharmgkbrs80359451
gwascentralrs80359451
openSNPrs80359451
23andMers80359451
23andMe allrs80359451
SNP Nexus

SNPshotrs80359451
SNPdbers80359451
MSV3drs80359451
GWAS Ctlgrs80359451
Max Magnitude6
rs80359451, also known as 4699del4, c.4471_4474delCTGA and p.Leu1491_Lys1492?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359451(;)
Alt rs80359451(;)
Reference rs80359451(ACTG;ACTG)
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.32912963_32912966delCTGA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000044419.3, RCV000077326.3, RCV000217416.1,