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Gene | KIT |
Variant | D820V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT D820V lies within the protein kinase domain of the Kit protein (UniProt.org). D820V has been identified as a secondary mutation associated with imatinib resistance (PMID: 18294292), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2022). |
Associated Drug Resistance | Y |
Transcript | NM_000222.2 |
gDNA | chr4:g.54733167A>T |
cDNA | c.2459A>T |
Protein | p.D820V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000222 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
XM_005265741.1 | chr4:g.54733167A>T | c.2459A>T | p.D820V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT D820V | gastrointestinal stromal tumor | predicted - sensitive | Avapritinib | Case Reports/Case Series | Actionable | In a Phase I trial, Ayvakit (avapritinib) treatment resulted in tumor reduction lasting through 15 cycles of treatment in a patient with gastrointestinal stromal tumor harboring KIT D820V, whose disease had progressed on previous Gleevec (imatinib), Sutent (sunitinib), and Stivarga (regorafenib) treatment (PMID: 29093181; NCT02508532). | 29093181 |
KIT W557_K558del KIT D816E KIT D820V | gastrointestinal stromal tumor | predicted - resistant | Imatinib | Case Reports/Case Series | Actionable | In a clinical study, KIT D816E and D820V were identified as secondary mutations in a patient with gastrointestinal stromal tumor harboring KIT W557_K558del who developed resistance to Gleevec (imatinib) (PMID: 18294292). | 18294292 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
KIT D820V | unknown | KIT Inhibitor |
KIT D816E KIT D820V | ||
KIT W557_K558del KIT D816E KIT D820V |