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| Gene | FLT3 |
| Variant | F594_W603dup |
| Impact List | duplication |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FLT3 F594_W603dup indicates the insertion of eight duplicate amino acids, aspartic acid (D)-593 through tryptophan (W)-603, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). FLT3 F594_W603dup has not been biochemically characterized, but is predicted to lead to a gain of Flt3 protein function based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077). |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 F594_W603dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 F594_W603dup |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28034110_28034139 |
| cDNA | c.1780_1809 |
| Protein | p.F594_W603 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.3 | chr13:g.28034110_28034139 | c.1780_1809 | p.F594_W603 | RefSeq | GRCh38/hg38 |
| NM_004119 | chr13:g.28034112_28034113insCTTAAGGTCATACTCATACTCCCTAAACCA | c.1809_1810insTTTAGGGAGTATGAGTATGACCTTAAGTGG | p.F594_W603dup | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| FLT3 F594_W603dup | acute myeloid leukemia | predicted - sensitive | Gilteritinib | Case Reports/Case Series | Actionable | In a clinical study, Xospata (gilteritinib) treatment led to decreased disease burden (<10%) in an acute myeloid leukemia patient harboring FLT3 F594_W603dup (PMID: 33563661; NCT02670525). | 33563661 |