KIT Y570_Y578del
Gene Variant Detail

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Gene KIT
Variant Y570_Y578del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions KIT Y570_Y578del results in the deletion of nine amino acids in the juxtamembrane domain (exon 11) of the Kit protein from amino acids 570 to 578 (PMID: 16226710). Y570_Y578del 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 Y570_Y578del

KIT mutant KIT exon11 KIT exon 11 del KIT Y570_Y578del

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Transcript NM_000222.3
gDNA chr4:g.54727476_54727502del27
cDNA c.1708_1734del27
Protein p.Y570_Y578delYIDPTQLPY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000222.2 chr4:g.54727476_54727502del27 c.1708_1734del27 p.Y570_Y578del RefSeq GRCh38/hg38
NM_001385288.1 chr4:g.54727485_54727511del27 c.1708_1734del27 p.P570_K578delPTQLPYDHK RefSeq GRCh38/hg38
NM_001385284.1 chr4:g.54727473_54727499del27 c.1708_1734del27 p.V570_P578delVYIDPTQLP RefSeq GRCh38/hg38
NM_001385285.1 chr4:g.54727476_54727502del27 c.1708_1734del27 p.Y570_Y578delYIDPTQLPY RefSeq GRCh38/hg38
NM_000222.3 chr4:g.54727476_54727502del27 c.1708_1734del27 p.Y570_Y578delYIDPTQLPY RefSeq GRCh38/hg38
NM_001093772.2 chr4:g.54727488_54727514del27 c.1708_1734del27 p.T570_W578delTQLPYDHKW RefSeq GRCh38/hg38
XM_017008178.1 chr4:g.54727476_54727502del27 c.1708_1734del27 p.Y570_Y578del RefSeq GRCh38/hg38
NM_001385290.1 chr4:g.54727473_54727499del27 c.1708_1734del27 p.V570_P578delVYIDPTQLP RefSeq GRCh38/hg38
NM_001385286.1 chr4:g.54727488_54727514del27 c.1708_1734del27 p.T570_W578delTQLPYDHKW RefSeq GRCh38/hg38
NM_001385292.1 chr4:g.54727485_54727511del27 c.1708_1734del27 p.P570_K578delPTQLPYDHK RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
KIT Y570_Y578del gastrointestinal stromal tumor predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment led to a partial response in a patient with gastrointestinal stromal tumors harboring KIT Y570_Y578del, with a progression-free survival of 19.1 months and an overall survival of 53.2 months (PMID: 18294292). 18294292