COMMD5
Chr 8COMM domain containing 5
Also known as: HCARG, HT002
COMMD5 encodes a scaffold protein in the commander complex that is essential for endosomal recycling of transmembrane cargos and is involved in kidney proximal tubule morphogenesis. Mutations in COMMD5 have not been definitively associated with human disease in the provided data. The gene shows low constraint against loss-of-function variants (pLI 0.00001, LOEUF 1.81), suggesting haploinsufficiency may be tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
196 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 | 49 | 0 | 49 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 120 | 11 | 0 | 131 |
Likely Benign | 0 | 7 | 0 | 0 | 7 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 127 | 65 | 0 | 192 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
COMMD5 · 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