COMMD3-BMI1

Chr 10

COMMD3-BMI1 readthrough

Also known as: PCGF4, RNF51

NCBI Gene: 100532731ENSG00000269897

This read-through transcript produces a fusion protein combining sequences from COMM domain-containing protein 3 and polycomb complex protein BMI-1. The gene is highly constrained against loss-of-function variants, but no specific disease associations have been established for mutations in this fusion transcript. Clinical significance of variants in this locus remains unclear.

Summary from RefSeq
Research Assistant →
0
Active trials
0
Pubs (1 yr)
9
P/LP submissions
0%
P/LP missense
0.60
LOEUF
—
Mechanism
Clinical Summary— COMMD3-BMI1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
9 unique Pathogenic / Likely Pathogenic· 16 VUS of 30 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.60LOEUF
pLI 0.001
Z-score 3.18
OE 0.35 (0.22–0.60)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.90Z-score
OE missense 0.66 (0.58–0.75)
163 obs / 247.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.35 (0.22–0.60)
0≤0.351.4
Missense OE0.66 (0.58–0.75)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 10 / 28.3Missense obs/exp: 163 / 247.2Syn Z: -1.06

ClinVar Variant Classifications

30 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic8
Likely Pathogenic1
VUS16
Likely Benign2
Benign2
8
Pathogenic
1
Likely Pathogenic
16
VUS
2
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
8
0
8
Likely Pathogenic
0
0
1
0
1
VUS
0
13
3
0
16
Likely Benign
0
1
1
0
2
Benign
0
0
2
0
2
Total01415029

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

View in ClinVar →

Protein Context — Lollipop Plot

COMMD3-BMI1 · 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