CCDC102B
Chr 18coiled-coil domain containing 102B
Also known as: ACY1L, AN, C18orf14, HsT1731
The protein maintains centrosome cohesion by forming fibers at the proximal ends of centrioles during interphase and dissociates during mitosis to allow centrosome separation. Mutations cause autosomal recessive retinal dystrophy and Bardet-Biedl syndrome, both ciliopathies affecting the retina and other organ systems. The gene shows tolerance to loss-of-function variation, consistent with recessive inheritance patterns.
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
265 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 | 120 | 0 | 120 |
Likely Pathogenic | 0 | 0 | 11 | 0 | 11 |
VUS | 0 | 81 | 23 | 0 | 104 |
Likely Benign | 0 | 5 | 4 | 2 | 11 |
Benign | 0 | 5 | 2 | 1 | 8 |
Conflicting | — | 1 | |||
| Total | 0 | 91 | 160 | 3 | 255 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CCDC102B · 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