C2CD3
Chr 11ARC2 domain containing 3 centriole elongation regulator
Also known as: OFD14
The C2CD3 protein regulates centriole elongation and promotes assembly of centriolar distal appendages, which are required for primary cilium formation and sonic hedgehog signaling. Mutations cause orofaciodigital syndrome XIV, an autosomal recessive ciliopathy characterized by malformations of the oral cavity, face, and digits. The gene shows minimal constraint against loss-of-function variants (very low pLI score), consistent with its recessive inheritance pattern.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
500 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 | 35 | 2 | 2 | 0 | 39 |
Likely Pathogenic | 11 | 2 | 2 | 0 | 15 |
VUS | 1 | 213 | 13 | 4 | 231 |
Likely Benign | 0 | 11 | 56 | 129 | 196 |
Benign | 0 | 1 | 1 | 2 | 4 |
Conflicting | — | 15 | |||
| Total | 47 | 229 | 74 | 135 | 500 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
C2CD3 · 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