MCM10
Chr 10ARminichromosome maintenance 10 replication initiation factor
Also known as: CNA43, DNA43, IMD80, PRO2249
MCM10 encodes a replication initiation factor that brings together the MCM2-7 helicase and DNA polymerase alpha/primase complex to initiate DNA replication and prevent replication-associated DNA damage. Autosomal recessive mutations cause immunodeficiency 80 with or without cardiomyopathy, affecting immune system function and potentially cardiac muscle. The gene shows low constraint to loss-of-function variation (pLI near zero), consistent with its recessive inheritance pattern.
Primary Disease Associations & Inheritance
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
216 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 | 1 | 1 | 22 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 117 | 7 | 0 | 124 |
Likely Benign | 0 | 13 | 1 | 8 | 22 |
Benign | 0 | 6 | 13 | 3 | 22 |
| Total | 1 | 137 | 44 | 11 | 193 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MCM10 · 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