Gene Variant Detail

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Gene FLT3
Variant Y599_D600insSTDNEYFYVDFREYEY
Impact List insertion
Protein Effect gain of function - predicted
Gene Variant Descriptions FLT3 Y599_D600insSTDNEYFYVDFREYEY results in the insertion of sixteen amino acids in the juxtamembrane domain of the Flt3 protein between amino acids 599 and 600 (UniProt.org). Y599_D600insSTDNEYFYVDFREYEY has not been biochemically characterized, but can be 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 Y599_D600insSTDNEYFYVDFREYEY

FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 Y599_D600insSTDNEYFYVDFREYEY

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Transcript NM_004119.3
gDNA chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCTGTGCTATA
cDNA c.1797_1798insAGCACAGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTAT
Protein p.Y599_D600insSTDNEYFYVDFREYEY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004119.3 chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCTGTGCTATA c.1797_1798insAGCACAGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTAT p.Y599_D600insSTDNEYFYVDFREYEY RefSeq GRCh38/hg38
NM_004119.2 chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCTGTGCTATA c.1797_1798insAGCACAGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTAT p.Y599_D600insSTDNEYFYVDFREYEY RefSeq GRCh38/hg38
NM_004119 chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCTGTGCTATA c.1797_1798insAGCACAGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAGTAT p.Y599_D600insSTDNEYFYVDFREYEY RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FLT3 Y599_D600insSTDNEYFYVDFREYEY acute myeloid leukemia predicted - sensitive Quizartinib Phase I Actionable In a Phase I clinical trial, patients with refractory or relapsed acute myeloid leukemia positive for FLT3-ITD demonstrated a 53% (9/17) response rate compared to a 14% (5/37) response rate in those patients negative for FLT3-ITD when treated with Vanflyta (quizartinib) (PMID: 24002496). 24002496
FLT3 Y599_D600insSTDNEYFYVDFREYEY acute myeloid leukemia predicted - sensitive E6201 Preclinical - Cell line xenograft Actionable In a preclinical study, E6201 induced cell death, inhibited cell growth, and decreased tumor burden in acute myeloid leukemia cells harboring FLT3-ITD mutations in culture and in cell line xenograft models (Blood Nov 2013, 122 (21) 2683). detail...
FLT3 Y599_D600insSTDNEYFYVDFREYEY acute myeloid leukemia predicted - sensitive Azacitidine + Sorafenib Phase II Actionable In a Phase II trial, 93% (40/43) of acute myeloid leukemia patients harbored a FLT3-ITD and of the 37 patients that were evaluable, the combination therapy, Nexavar (sorafenib) and Vidaza (azacitidine), resulted in a 46% (17/37) response rate, which included 10 CRi, 6 CR, and 1 PR (PMID: 23613521). 23613521
FLT3 Y599_D600insSTDNEYFYVDFREYEY acute myeloid leukemia predicted - sensitive FLX925 Preclinical Actionable In a preclinical study, acute myeloid leukemia cells harboring a FLT3-ITD secondary resistance mutation demonstrated sensitivity to FLX925 (Cancer Res, August 1, 2015 75; 787). detail...