[KMT2D]
Mutation tier
| Entity | Tier | Description |
|---|---|---|
| BL | 1 | high-confidence BL gene |
| DLBCL | 1 | high-confidence DLBCL gene |
| FL | 1 | high-confidence FL gene |
Mutation incidence
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 11.32 |
| BL | Thomas cohort | 14.00 |
| BL | Panea cohort | 15.80 |
| DLBCL | GAMBL genomes | 33.46 |
| DLBCL | Schmitz cohort | 34.50 |
| DLBCL | Reddy cohort | 22.30 |
| DLBCL | Chapuy cohort | 26.10 |
| FL | GAMBL genomes | 67.67 |
Mutation pattern
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | No | Yes | 0.689 | 13.459 |
| DLBCL | No | Yes | 3.731 | 104.190 |
| FL | No | Yes | 20.755 | 1353.812 |
[!NOTE] First described in BL in 2019 by Grande BM. First described in DLBCL in 2011 by Morin RD. First described in FL in 2011 by Morin RD
## KMT2D Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr12 | 49433521 | C>A | E2678* |
| chr12 | 49433397 | G>A | Q2684* |
| chr12 | 49433394 | G>A | R2685* |
| chr12 | 49433388 | G>A | R2687* |
| chr12 | 49432710 | A>T | L2810* |
| chr12 | 49432699 | G>A | Q2814* |
| chr12 | 49432684 | G>A | Q2819* |
| chr12 | 49432681 | G>A | Q2820* |
| chr12 | 49424741 | G>A | R4536* |
| chr12 | 49420607 | G>A | R5048C |
| chr12 | 49420606 | C>T | R5048H |
| chr12 | 49420493 | G>A | R5086* |
| chr12 | 49420214 | G>A | R5179C |
| chr12 | 49420213 | C>T | R5179H |
| chr12 | 49420115 | C>G | A5212P |
| chr12 | 49420108 | C>T | R5214H |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
Citing
If you use the information or data from this site, please cite
Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.
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