MCM7
Chr 7minichromosome maintenance complex component 7
Also known as: CDC47, MCM2, P1.1-MCM3, P1CDC47, P85MCM, PNAS146, PPP1R104
The MCM7 protein functions as a core component of the MCM2-7 replicative helicase complex that is essential for DNA replication initiation and elongation in eukaryotic cells. Mutations cause autosomal recessive primordial dwarfism with severe growth retardation and microcephaly, typically presenting from birth. This gene shows minimal tolerance to loss-of-function variants, reflecting its critical role in fundamental cellular processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
123 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 | 14 | 0 | 14 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 66 | 2 | 0 | 69 |
Likely Benign | 0 | 3 | 1 | 1 | 5 |
Benign | 0 | 1 | 0 | 4 | 5 |
Conflicting | — | 1 | |||
| Total | 1 | 70 | 17 | 5 | 94 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MCM7 · 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