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rs80359452

From SNPedia

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


Make rs80359452(-;-)
ReferenceGRCh38 38.1/141
Chromosome13
Position32338827
GeneBRCA2
is asnp
is mentioned by
dbSNPrs80359452
ebirs80359452
HLIrs80359452
Exacrs80359452
Varsomers80359452
Maprs80359452
PheGenIrs80359452
hapmaprs80359452
1000 genomesrs80359452
hgdprs80359452
ensemblrs80359452
gopubmedrs80359452
geneviewrs80359452
scholarrs80359452
googlers80359452
pharmgkbrs80359452
gwascentralrs80359452
openSNPrs80359452
23andMers80359452
23andMe allrs80359452
SNP Nexus

SNPshotrs80359452
SNPdbers80359452
MSV3drs80359452
GWAS Ctlgrs80359452
Max Magnitude6
rs80359452, also known as 4700del4, c.4472_4475delTGAA and p.Leu1491_Lys1492?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80359452(;)
Alt rs80359452(;)
Reference rs80359452(TGAA;TGAA)
Significance Pathogenic
Disease Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene BRCA2
CLNDBN Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000013.10:g.32912964_32912967delTGAA
CLNSRC Breast Cancer Information Core (BRCA2)
CLNACC RCV000031487.5, RCV000044420.3, RCV000213725.1,