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Gene | KIT |
Variant | D820Y |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | KIT D820Y lies within the protein kinase domain of the Kit protein (UniProt.org). D820Y results in constitutive phosphorylation of Kit and is transforming in cell culture (PMID: 19035443, PMID: 11984533), and has also been identified as a secondary drug mutation associated with imatinib resistance (PMID: 18488160). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT act mut KIT D820Y KIT mutant KIT exon17 KIT D820Y |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733166G>T |
cDNA | c.2458G>T |
Protein | p.D820Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265741 | chr4:g.54733166G>T | c.2458G>T | p.D820Y | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733166G>T | c.2458G>T | p.D820Y | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733166G>T | c.2458G>T | p.D820Y | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733166G>T | c.2458G>T | p.D820Y | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733166G>T | c.2458G>T | p.D820Y | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733166G>T | c.2458G>T | p.D820Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT V559D KIT D820Y | Advanced Solid Tumor | sensitive | Nilotinib | Preclinical - Cell culture | Actionable | In a preclinical study, Tasigna (nilotinib) inhibited proliferation of transformed cells expressing a KIT V559D/D820Y double mutation in culture, with increased potency compared to Sprycel (dasatinib) or Nexavar (sorafenib) (PMID: 17699867). | 17699867 |
KIT V559D KIT D820Y | Advanced Solid Tumor | sensitive | Dasatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Sprycel (dasatinib) inhibited proliferation of transformed cells expressing a KIT V559D/D820Y double mutation in culture (PMID: 17699867). | 17699867 |
KIT V559D KIT D820Y | Advanced Solid Tumor | sensitive | Sorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Nexavar (sorafenib) inhibited proliferation of transformed cells expressing a KIT V559D/D820Y double mutation in culture (PMID: 17699867). | 17699867 |
KIT V555_L576del KIT D820G KIT D820Y | gastrointestinal stromal tumor | predicted - resistant | Imatinib | Case Reports/Case Series | Actionable | In a clinical study, KIT D820G and KIT D820Y were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring a primary KIT V555_L576del mutation, who developed resistance to Gleevec (imatinib) (PMID: 18488160). | 18488160 |
KIT Y568_L576delinsCV KIT D816E KIT D820Y | gastrointestinal stromal tumor | predicted - sensitive | Ripretinib | Case Reports/Case Series | Actionable | In a Phase I trial, treatment with Qinlock (ripretinib) decreased circulating tumor DNA, resulted in stable disease lasting over 21 months in a patient with gastrointestinal stromal tumor harboring a primary KIT Y568_L576delinsCV mutation and two acquired resistance mutations, KIT D816E and KIT D820Y (PMID: 31085175; NCT02571036). | 31085175 |
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 |
KIT exon 11 del KIT D820Y | gastrointestinal stromal tumor | sensitive | Ripretinib | Preclinical - Cell culture | Actionable | In a preclinical study, Qinlock (ripretinib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D820Y in culture (PMID: 38408285). | 38408285 |
KIT exon 11 del KIT D820Y | gastrointestinal stromal tumor | resistant | Sunitinib | Preclinical - Cell culture | Actionable | In a preclinical study, a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and expressing KIT D820Y demonstrated resistance to Sutent (sunitinib) in culture (PMID: 38408285). | 38408285 |
KIT exon 11 del KIT D820Y | gastrointestinal stromal tumor | sensitive | Nintedanib | Preclinical - Cell culture | Actionable | In a preclinical study, Ofev (nintedanib) inhibited viability of a gastrointestinal stromal tumor cell line harboring a KIT exon 11 deletion and KIT D820Y in culture (PMID: 38408285). | 38408285 |
KIT P551_E554delinsQ KIT S645_L647dup KIT D820Y | gastrointestinal stromal tumor | predicted - resistant | Ripretinib | Case Reports/Case Series | Actionable | In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT P551_E554delinsQ and D820Y progressed on third-line treatment with Qinlock (ripretinib) after 29 months and was found to have acquired KIT S645_L647dup (reported as L647_G648insSYL) in the metastatic lesion (PMID: 38408285). | 38408285 |