KIT E562_L576del
Gene Variant Detail

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Gene KIT
Variant E562_L576del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT E562_L576del results in the deletion of 15 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 562 to 576 (PMID: 16226710). E562_L576del has not been characterized, however similar Kit exon 11 deletions are activating (PMID: 9438854, PMID: 15365079), and therefore, is predicted to lead to a gain of Kit protein function.
Associated Drug Resistance
Category Variants Paths

KIT mutant KIT act mut KIT exon 11 del KIT E562_L576del

KIT mutant KIT exon11 KIT exon 11 del KIT E562_L576del

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Transcript NM_000222.3
gDNA chr4:g.54727452_54727496del45
cDNA c.1684_1728del45
Protein p.E562_L576del15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001385286.1 chr4:g.54727466_54727510del45 c.1686_1730del45 p.N562_H576del15 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727466_54727510del45 c.1686_1730del45 p.N562_H576del15 RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727461_54727505del45 c.1684_1728del45 p.G562_D576del15 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727452_54727496del45 c.1684_1728del45 p.E562_L576del15 RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727449_54727493del45 c.1684_1728del45 p.E562_Q576del15 RefSeq GRCh38/hg38
NM_000222.2 chr4:g.54727452_54727496del45 c.1684_1728del45 p.E562_L576del RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727452_54727496del45 c.1684_1728del45 p.E562_L576del15 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727461_54727505del45 c.1684_1728del45 p.G562_D576del15 RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727449_54727493del45 c.1684_1728del45 p.E562_Q576del15 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT E562_L576del gastrointestinal stromal tumor predicted - sensitive Binimetinib + Imatinib Case Reports/Case Series Actionable In a Phase II trial, Gleevec (imatinib) and Mektovi (binimetinib) combination treatment resulted in an 80% pathological response and 23% RECIST response in a patient with a small bowel gastrointestinal stromal tumor harboring KIT E562_L576del (PMID: 35041493; NCT01991379). 35041493