COMMD2

Chr 3

COMM domain containing 2

Also known as: HSPC042

NCBI Gene: 51122ENSG00000114744UniProt: Q86X83OMIM: 616699

Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.82
Clinical Summary— COMMD2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
29 VUS of 37 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.82LOEUF
pLI 0.000
Z-score -0.61
OE 1.21 (0.77–1.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.69Z-score
OE missense 0.81 (0.68–0.97)
83 obs / 102.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.21 (0.77–1.82)
0≤0.351.4
Missense OE?0.81 (0.68–0.97)
0≤0.61.4
Synonymous OE?1.22
0≤1.21.6
LoF obs/exp: 12 / 9.9Missense obs/exp: 83 / 102.6Syn Z: -1.13

ClinVar Variant Classifications

37 submitted variants in ClinVar

ClinVar

Classification Summary

VUS29
Likely Benign2
29
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
29
0
0
29
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total0310031

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

21 pathogenic / likely-pathogenic (of 21) ClinVar copy-number / structural variants overlap COMMD2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

COMMD2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients