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Gene | KIT |
Variant | D816Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT D816Y lies within the tyrosine kinase domain 2 of the Kit protein (PMID: 21640708). D816Y results in constitutive phosphorylation of Kit, activation of Akt and Mapk pathways in cultured cells (PMID: 21640708, PMID: 16397263), and confers resistance to imatinib in culture (PMID: 16397263). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT act mut KIT D816Y KIT mutant KIT exon17 KIT D816X KIT D816Y |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733154G>T |
cDNA | c.2446G>T |
Protein | p.D816Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001093772.1 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_001385292.1 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
XM_017008179.1 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
XM_017008179 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_001093772.2 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733154G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
NM_001093772 | chr4:g.54733166G>T | c.2446G>T | p.D816Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT D816Y | mast cell neoplasm | predicted - sensitive | Ripretinib | Preclinical | Actionable | In a preclinical study, Qinlock (ripretinib) inhibited proliferation of mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) in culture, and resulted in tumor growth inhibition in allograft models (PMID: 31085175). | 31085175 |
KIT D816Y | mast cell neoplasm | predicted - sensitive | Avapritinib | Preclinical | Actionable | In a preclinical study, Ayvakit (avapritinib) inhibited Kit phosphorylation and proliferation of murine mastocytoma cells harboring KIT D814Y (corresponding to human D816Y) in culture, and resulted in tumor regression in allograft animal models (PMID: 29093181). | 29093181 |
KIT D816Y | Advanced Solid Tumor | resistant | Flumatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Flumatinib in culture (PMID: 24205792). | 24205792 |
KIT D816Y | Advanced Solid Tumor | resistant | Sunitinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Sutent (sunitinib) in culture (PMID: 24205792). | 24205792 |
KIT D816Y | Advanced Solid Tumor | resistant | Imatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing KIT D816Y were resistant to Gleevec (imatinib mesylate) in culture (PMID: 16397263). | 16397263 |
KIT D816Y | Advanced Solid Tumor | resistant | Imatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing KIT D816Y were resistant to treatment with Gleevec (imatinib) in culture (PMID: 24205792). | 24205792 |
KIT D816Y | mast cell neoplasm | predicted - resistant | Imatinib | Preclinical - Cell culture | Actionable | In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) were resistant to Gleevec (imatinib) in culture (PMID: 31085175). | 31085175 |
KIT D816Y | mast cell neoplasm | decreased response | Sunitinib | Preclinical - Cell culture | Actionable | In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) demonstrated reduced response to growth inhibition by Sutent (sunitinib) compared to GIST cells harboring KIT exon 11 deletion in culture (PMID: 31085175). | 31085175 |
KIT D816Y | mast cell neoplasm | predicted - resistant | Regorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) were resistant to Stivarga (regorafenib) in culture (PMID: 31085175). | 31085175 |
KIT D816Y | mast cell neoplasm | predicted - sensitive | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, Rydapt (midostaurin) inhibited proliferation of mouse mastocytoma cells harboring KIT D814Y (corresponds to D816Y in human) in culture (PMID: 31085175). | 31085175 |