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KIT D820Y - Gene Variant Detail

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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

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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_000222.3 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
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

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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