MLLT10
Chr 10ADSomaticMLLT10 histone lysine methyltransferase DOT1L cofactor
Also known as: AF10
This protein functions as a transcription factor that regulates gene expression by binding to histones and DNA, and controls histone methylation through DOT1L interactions. Mutations cause acute myeloid leukemia, typically through somatic chromosomal rearrangements that create fusion proteins. The gene is highly constrained against loss-of-function variants in the general population, and inheritance follows an autosomal dominant pattern when germline mutations are involved.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
169 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 | 9 | 0 | 9 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 105 | 4 | 0 | 109 |
Likely Benign | 0 | 6 | 3 | 8 | 17 |
Benign | 0 | 1 | 3 | 2 | 6 |
| Total | 0 | 112 | 20 | 10 | 142 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MLLT10 · 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
External Resources
Links to major genomics databases and tools