The FLT3 c.1792_1793insCTACGTTGATTTCAGAGAATATGA (p.(Glu598delinsAlaThrLeuIleSerGluAsnMetLys)) variant has not been observed in somatic cancers in COSMIC and has not been reported in ClinVar; however, OncoKB classifies this specific variant as Likely Oncogenic with a likely gain-of-function effect.
cosmic ↗ clinvar ↗ oncokb ↗This variant is absent from gnomAD v2.1 and gnomAD v4.1, with an observed population frequency of 0, which is below the 0.1% PM2 threshold.
gnomad_v2 ↗ gnomad_v4 ↗Published studies show that FLT3 internal tandem duplication and related length mutations in the juxtamembrane region are activating, and codons 589-599 form a recurrent cluster; this supports the pathogenic relevance of the E598 region, although a direct functional assay for this exact variant was not identified.
PMID:9737679 ↗ PMID:11090077 ↗ PMID:11756186 ↗ PMID:12384447 ↗SpliceAI predicts no significant splice impact for this variant, with a maximum delta score of 0.08.
spliceai ↗
