CEP19
Chr 3ARcentrosomal protein 19
Also known as: C3orf34, MOSPGF
The protein localizes to centrosomes and primary cilia, where it recruits RABL2B GTPase to initiate ciliation and is required for the early steps of cilium assembly. Mutations cause morbid obesity and spermatogenic failure, inherited in an autosomal recessive pattern. The gene shows relatively low constraint to loss-of-function variants (pLI 0.016, LOEUF 1.09).
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
224 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 | 85 | 0 | 85 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 5 | 66 | 23 | 0 | 94 |
Likely Benign | 0 | 0 | 6 | 24 | 30 |
Benign | 0 | 1 | 2 | 2 | 5 |
Conflicting | — | 3 | |||
| Total | 5 | 67 | 119 | 26 | 220 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CEP19 · 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
External Resources
Links to major genomics databases and tools