rs2853690

This is a 3 prime utr variant variant in the TERT gene.

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ClinVar annotation

Benign★★★☆
4 submitters1 publication

Aplastic anemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; not specified

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Research that mentions this SNP (1)

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Cyclin D1 splice variant and risk for non-Hodgkin lymphoma
AssociationN=1,110Sophia S. Wang et al.(2006)· Human Genetics

Case-control study examining associations between cell cycle gene polymorphisms and non-Hodgkin lymphoma (NHL) overall and subtypes. Studied 10 SNPs in genes including BCL6 (rs1056932), CCND1 (rs603965, rs678653), CCNH (rs2266690), CDKN2A (rs3731249, rs11515, rs3088440), CHEK1 (rs506504), LMO2 (rs2038602, rs3740617), and TERT (rs2736098, rs2853690). Notable associations included CCND1 rs603965 with increased NHL risk (p trend=0.021) and CCND1 rs603965 AA genotype with DLBCL (OR=1.4, 95% CI 1.0-2.0).

Traits studied:B-cell lymphomaDiffuse large B-cell lymphomaFollicular lymphomaMarginal zone lymphomaNon-Hodgkin lymphomaSmall lymphocytic lymphomaT-cell lymphoma
PubMedDOIMetascience Observatory

About TERT

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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