T26M (p.Thr26Met) variant of TERT (Telomerase reverse transcriptase)
T26M (p.Thr26Met) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
T26M (p.Thr26Met) variant details
- p.Thr26Met
- rs760727529
- ClinGen CA3185025
- ClinVar RCV002550983
- ClinVar RCV004558685
- Conflicting interpretations
- Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal dominant 2; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.30
- MetaLR 0.81
- MetaSVM 0.27
- CADD 23.30
- PolyPhen-2 0.55
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Idiopathic Pulmonary Fibrosis; Dyskeratosis congenita, autosomal)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)