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Gene | KIT |
Variant | V560del |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT V560del (also reported as V559del) results in the deletion of an amino acid in the juxtamembrane domain (exon 11) of the Kit protein at amino acid 560 (PMID: 12879016). V560del confers a gain of function to Kit, resulting in constitutive, ligand independent phosphorylation of Kit and activation of Akt in cell culture (PMID: 15236194, PMID: 22282465), and transformation of cultured cells (PMID: 19861435). |
Associated Drug Resistance | |
Category Variants Paths |
KIT mutant KIT act mut KIT exon 11 del KIT V560del KIT mutant KIT exon11 KIT exon 11 del KIT V560del |
Transcript | NM_000222.3 |
gDNA | chr4:g.54727447_54727449delTTG |
cDNA | c.1679_1681delTTG |
Protein | p.V560delV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265742.3 | chr4:g.54727456_54727458delTAA | c.1679_1681delTAA | p.I560delI | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54727447_54727449delTTG | c.1682_1684delTTG | p.V561delV | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54727447_54727449delTTG | c.1679_1681delTTG | p.V560delV | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54727458_54727460delAAT | c.1678_1680delAAT | p.N560delN | RefSeq | GRCh38/hg38 |
XM_017008178 | chr4:g.54727447_54727449delTTG | c.1679_1681delTTG | p.V560delV | RefSeq | GRCh38/hg38 |
XM_017008180 | chr4:g.54727458_54727460delAAT | c.1678_1680delAAT | p.N560delN | RefSeq | GRCh38/hg38 |
XM_005265742 | chr4:g.54727456_54727458delTAA | c.1679_1681delTAA | p.I560delI | RefSeq | GRCh38/hg38 |
XM_017008180.1 | chr4:g.54727458_54727460delAAT | c.1678_1680delAAT | p.N560delN | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54727447_54727449delTTG | c.1679_1681delTTG | p.V560delV | RefSeq | GRCh38/hg38 |
NM_001385285.1 | chr4:g.54727447_54727449delTTG | c.1679_1681delTTG | p.V560delV | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54727447_54727449delTTG | c.1679_1681delTTG | p.V560delV | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54727458_54727460delAAT | c.1678_1680delAAT | p.N560delN | RefSeq | GRCh38/hg38 |
XM_005265740 | chr4:g.54727447_54727449delTTG | c.1682_1684delTTG | p.V561delV | RefSeq | GRCh38/hg38 |
XM_017008178.1 | chr4:g.54727447_54727449delTTG | c.1679_1681delTTG | p.V560delV | RefSeq | GRCh38/hg38 |
NM_001385286.1 | chr4:g.54727458_54727460delAAT | c.1678_1680delAAT | p.N560delN | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54727456_54727458delTAA | c.1679_1681delTAA | p.I560delI | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54727447_54727449delTTG | c.1682_1684delTTG | p.V561delV | RefSeq | GRCh38/hg38 |
NM_001385288.1 | chr4:g.54727456_54727458delTAA | c.1679_1681delTAA | p.I560delI | RefSeq | GRCh38/hg38 |
XM_017008179.1 | chr4:g.54727456_54727458delTAA | c.1679_1681delTAA | p.I560delI | RefSeq | GRCh38/hg38 |
XM_017008179 | chr4:g.54727456_54727458delTAA | c.1679_1681delTAA | p.I560delI | RefSeq | GRCh38/hg38 |
NM_001385284.1 | chr4:g.54727447_54727449delTTG | c.1682_1684delTTG | p.V561delV | RefSeq | GRCh38/hg38 |
NM_001093772.1 | chr4:g.54727458_54727460delAAT | c.1678_1680delAAT | p.N560delN | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54727447_54727449delTTG | c.1682_1684delTTG | p.V561delV | RefSeq | GRCh38/hg38 |
XM_005265740.1 | chr4:g.54727447_54727449delTTG | c.1682_1684delTTG | p.V561delV | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT V560del KIT over exp | thymic carcinoma | predicted - sensitive | Imatinib | Case Reports/Case Series | Actionable | In a clinical case report, a patient with metastatic thymic carcinoma harboring KIT V560del with KIT over expression initially demonstrated stable disease and reduction in metastatic lesions following treatment with Gleevec (imatinib), but progressed after 6 months (PMID: 15201427). | 15201427 |
KIT V560del KIT V654A | Advanced Solid Tumor | sensitive | Nilotinib | Preclinical - Cell culture | Actionable | In a preclinical study, Tasigna (nilotinib) inhibited proliferation of transformed cells expressing a KIT V560del/V654A double mutation in culture (PMID: 17699867). | 17699867 |
KIT V560del KIT N822K | gastrointestinal stromal tumor | predicted - resistant | Imatinib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with gastrointestinal stromal tumor harboring KIT V560del progressed following an initial response to Gleevec (imatinib), and was found to have acquired the secondary resistance mutation KIT N822K (PMID: 18294292). | 18294292 |
KIT K558N KIT V560del | 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 K558N and KIT V560del (reported as KIT V559del), with a progression-free survival of 23.4 months and an overall survival of 54.7 months (PMID: 18294292). | 18294292 |