Somatic variants present in our patient’s leukemic cells at diagnosis
| Gene . | Coding DNA change . | Predicted protein change . | Variant classification . | Variant allele frequency . |
|---|---|---|---|---|
| CEBPA | c.68dupC | p.H24Afs | Frame shift insertion | 0.5052 |
| TET2 | c.2101C>T | p.Q701* | Nonsense mutation | 0.5625 |
| TET2 | c.3812dupG | p.C1271fs*29 | Frame shift insertion | 0.3267 |
| KCNT2 | c.664C>T | p.R222* | Nonsense mutation | 0.4286 |
| IKBKE | c.365G>A | p.G122D | Missense mutation | 0.1667 |
| KDR | c.659-1G>T | NA | Splice site | 0.1064 |
| KMT2C | c.2591A>G | p.E864G | Missense mutation | 0.2333 |
| PDZRN4 | c.2994G>T | p.K998N | Missense mutation | 0.4138 |
| Gene . | Coding DNA change . | Predicted protein change . | Variant classification . | Variant allele frequency . |
|---|---|---|---|---|
| CEBPA | c.68dupC | p.H24Afs | Frame shift insertion | 0.5052 |
| TET2 | c.2101C>T | p.Q701* | Nonsense mutation | 0.5625 |
| TET2 | c.3812dupG | p.C1271fs*29 | Frame shift insertion | 0.3267 |
| KCNT2 | c.664C>T | p.R222* | Nonsense mutation | 0.4286 |
| IKBKE | c.365G>A | p.G122D | Missense mutation | 0.1667 |
| KDR | c.659-1G>T | NA | Splice site | 0.1064 |
| KMT2C | c.2591A>G | p.E864G | Missense mutation | 0.2333 |
| PDZRN4 | c.2994G>T | p.K998N | Missense mutation | 0.4138 |
This list is focused on genes mutated in at least 1 hematopoietic neoplasm per the COSMIC database. Just those somatic variants that are predicted to have high impact on protein function (eg, missense, nonsense, frame shifts, and splice site variants) are included.