CCDC17
Chr 1coiled-coil domain containing 17
The CCDC17 protein's specific function is not well characterized based on the available data. Mutations in this gene have been implicated in colorectal adenocarcinoma, though the neurological phenotypes associated with CCDC17 variants are not defined in the provided information. The gene shows tolerance to loss-of-function variants with very low constraint metrics.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
155 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 | 4 | 0 | 4 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 111 | 15 | 0 | 126 |
Likely Benign | 0 | 4 | 2 | 0 | 6 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 116 | 23 | 0 | 139 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CCDC17 · 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 →No open access results found
External Resources
Links to major genomics databases and tools