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Gene KIT
Variant M552_D572del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT M552_D572del results in the deletion of 21 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 552 to 572 (PMID: 16226710). M552_D572del 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 M552_D572del

KIT mutant KIT exon11 KIT exon 11 del KIT M552_D572del

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Transcript NM_000222.3
gDNA chr4:g.54727422_54727484del63
cDNA c.1654_1716del63
Protein p.M552_D572del21
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727422_54727484del63 c.1654_1716del63 p.M552_D572del21 RefSeq GRCh38/hg38
NM_001093772.1 chr4:g.54727435_54727497del63 c.1655_1717del63 p.Q552_L572del21 RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727419_54727481del63 c.1654_1716del63 p.P552_I572del21 RefSeq GRCh38/hg38
XM_005265740.1 chr4:g.54727419_54727481del63 c.1654_1716del63 p.P552_I572del21 RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727422_54727484del63 c.1654_1716del63 p.M552_D572del21 RefSeq GRCh38/hg38
XM_017008179.1 chr4:g.54727431_54727493del63 c.1654_1716del63 p.V552_Q572del21 RefSeq GRCh38/hg38
XM_005265741 chr4:g.54727419_54727481del63 c.1654_1716del63 p.P552_I572del21 RefSeq GRCh38/hg38
XM_005265741.1 chr4:g.54727419_54727481del63 c.1654_1716del63 p.P552_I572del21 RefSeq GRCh38/hg38
XM_017008179 chr4:g.54727431_54727493del63 c.1654_1716del63 p.V552_Q572del21 RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727422_54727484del63 c.1654_1716del63 p.M552_D572del21 RefSeq GRCh38/hg38
NM_001093772 chr4:g.54727435_54727497del63 c.1655_1717del63 p.Q552_L572del21 RefSeq GRCh38/hg38
XM_017008180 chr4:g.54727435_54727497del63 c.1655_1717del63 p.Q552_L572del21 RefSeq GRCh38/hg38
NM_000222 chr4:g.54727422_54727484del63 c.1654_1716del63 p.M552_D572del21 RefSeq GRCh38/hg38
XM_005265742 chr4:g.54727431_54727493del63 c.1654_1716del63 p.V552_Q572del21 RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727419_54727481del63 c.1654_1716del63 p.P552_I572del21 RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727422_54727484del63 c.1654_1716del63 p.M552_D572del21 RefSeq GRCh38/hg38
XM_005265740 chr4:g.54727419_54727481del63 c.1654_1716del63 p.P552_I572del21 RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727435_54727497del63 c.1655_1717del63 p.Q552_L572del21 RefSeq GRCh38/hg38
XM_017008178 chr4:g.54727422_54727484del63 c.1654_1716del63 p.M552_D572del21 RefSeq GRCh38/hg38
XM_017008180.1 chr4:g.54727435_54727497del63 c.1655_1717del63 p.Q552_L572del21 RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727435_54727497del63 c.1655_1717del63 p.Q552_L572del21 RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727431_54727493del63 c.1654_1716del63 p.V552_Q572del21 RefSeq GRCh38/hg38
XM_005265742.3 chr4:g.54727431_54727493del63 c.1654_1716del63 p.V552_Q572del21 RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727431_54727493del63 c.1654_1716del63 p.V552_Q572del21 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT M552_D572del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to partial responses in two patients with gastrointestinal stromal tumors harboring KIT M552_D572del, with a progression-free survival (PFS) of 25.2 mo and overall survival (OS) of 32 mo in one patient, and a PFS of 50.9 mo and OS of 53.9 mo in the second patient (PMID: 18294292). 18294292