CNTRL
Chr 9centriolin
Also known as: CEP1, CEP110, FAN, bA165P4.1
This gene encodes a centrosomal protein that functions as a microtubule organizing center and anchors exocyst and SNARE complexes at the midbody during cytokinesis for proper cell division. The extremely low pLI score indicates this gene is highly tolerant to loss-of-function mutations, and no pediatric neurological diseases have been definitively associated with pathogenic variants in this gene. While chromosomal translocations involving this locus have been reported in hematologic malignancies, these do not represent typical Mendelian inheritance patterns relevant to pediatric neurology practice.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
390 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 | 0 | 0 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 276 | 3 | 0 | 279 |
Likely Benign | 0 | 28 | 0 | 3 | 31 |
Benign | 0 | 5 | 0 | 4 | 9 |
Conflicting | — | 1 | |||
| Total | 0 | 309 | 28 | 7 | 345 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CNTRL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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