TSEN54
Chr 17ARtRNA splicing endonuclease subunit 54
Also known as: PCH2A, PCH4, PCH5, SEN54L, sen54
This gene encodes a subunit of the tRNA splicing endonuclease complex that catalyzes intron removal from precursor tRNAs and is involved in pre-mRNA 3-prime end processing. Mutations cause pontocerebellar hypoplasia types 2A, 4, and 5 through autosomal recessive inheritance. The pathogenic mechanism involves disrupted tRNA processing leading to defective protein synthesis.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
749 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 29 | 2 | 33 | 0 | 64 |
Likely Pathogenic | 19 | 7 | 8 | 1 | 35 |
VUS | 2 | 203 | 31 | 3 | 239 |
Likely Benign | 0 | 18 | 137 | 163 | 318 |
Benign | 0 | 10 | 31 | 3 | 44 |
Conflicting | — | 35 | |||
| Total | 50 | 240 | 240 | 170 | 735 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TSEN54 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools