PDCD10
Chr 3ADprogrammed cell death 10
Also known as: CCM3, TFAR15
The PDCD10 protein regulates cell proliferation and apoptosis, modulates MAPK signaling pathways, and is essential for normal vascular development and angiogenesis. Mutations cause cerebral cavernous malformations-3, which are vascular malformations that lead to seizures and cerebral hemorrhages, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, indicating that protein function is critical for normal development.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
253 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 | 46 | 0 | 50 | 0 | 96 |
Likely Pathogenic | 14 | 1 | 9 | 0 | 24 |
VUS | 0 | 34 | 29 | 1 | 64 |
Likely Benign | 0 | 1 | 11 | 19 | 31 |
Benign | 0 | 0 | 18 | 0 | 18 |
Conflicting | — | 2 | |||
| Total | 60 | 36 | 117 | 20 | 235 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PDCD10 · 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