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Gene | KIT |
Variant | W557_Q575del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | KIT W557_Q575del results in the deletion of 19 amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 557 to 575 (PMID: 16226710). W557_Q575del 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 W557_Q575del KIT mutant KIT exon11 KIT exon 11 del KIT W557_Q575del |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727437_54727493del57 |
cDNA | c.1669_1725del57 |
Protein | p.W557_Q575del19 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222.2 | chr4:g.54727437_54727493del57 | c.1669_1725del57 | p.W557_Q575del | RefSeq | GRCh38/hg38 |
NM_001385284.1 | chr4:g.54727436_54727492del57 | c.1671_1727del57 | p.W558_Q576del19 | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54727436_54727492del57 | c.1671_1727del57 | p.W558_Q576del19 | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727437_54727493del57 | c.1669_1725del57 | p.W557_Q575del19 | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727437_54727493del57 | c.1669_1725del57 | p.W557_Q575del | RefSeq | GRCh38/hg38 |
NM_001385288.1 | chr4:g.54727447_54727503del57 | c.1670_1726del57 | p.V557_Y575del19 | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727437_54727493del57 | c.1669_1725del57 | p.W557_Q575del19 | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54727449_54727505del57 | c.1669_1725del57 | p.E557_D575del19 | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54727447_54727503del57 | c.1670_1726del57 | p.V557_Y575del19 | RefSeq | GRCh38/hg38 |
NM_001385286.1 | chr4:g.54727449_54727505del57 | c.1669_1725del57 | p.E557_D575del19 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT Y553S KIT W557_Q575del KIT D820Y | gastrointestinal stromal tumor | predicted - resistant | Imatinib | Case Reports/Case Series | Actionable | In a clinical study, KIT D820Y was identified as a secondary mutation in a patient with gastrointestinal stromal tumor harboring primary KIT W557_Q575del (reported as Q556_T574del) and KIT Y553S mutations, who developed resistance to Gleevec (imatinib) (PMID: 18488160). | 18488160 |