MAD2L1
Chr 4mitotic arrest deficient 2 like 1
Also known as: HSMAD2, MAD2
MAD2L1 encodes a component of the mitotic spindle assembly checkpoint that prevents anaphase onset until all chromosomes are properly aligned at the metaphase plate by sequestering CDC20. Mutations cause mosaic variegated aneuploidy syndrome, characterized by constitutional mosaicism for various trisomies and monosomies, intellectual disability, growth retardation, and increased cancer risk, inherited in an autosomal recessive pattern. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
48 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 | 20 | 0 | 20 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 12 | 4 | 0 | 16 |
Likely Benign | 0 | 0 | 0 | 4 | 4 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 13 | 25 | 4 | 42 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MAD2L1 · 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