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Gene | KIT |
Variant | C809G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | KIT C809G lies within the protein kinase domain of the Kit protein (UniProt.org). C809G has been associated with secondary resistance to select KIT inhibitors (PMID: 16954519), but has not been biochemically characterized and therefore, its effect on Kit protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
KIT mutant KIT exon17 KIT C809G |
Transcript | NM_000222.3 |
gDNA | chr4:g.54733133T>G |
cDNA | c.2425T>G |
Protein | p.C809G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_005265741.1 | chr4:g.54733133T>G | c.2425T>G | p.C809G | RefSeq | GRCh38/hg38 |
XM_005265741 | chr4:g.54733133T>G | c.2425T>G | p.C809G | RefSeq | GRCh38/hg38 |
NM_000222.2 | chr4:g.54733133T>G | c.2425T>G | p.C809G | RefSeq | GRCh38/hg38 |
NM_000222 | chr4:g.54733133T>G | c.2425T>G | p.C809G | RefSeq | GRCh38/hg38 |
NM_001385290.1 | chr4:g.54733133T>G | c.2425T>G | p.C809G | RefSeq | GRCh38/hg38 |
NM_000222.3 | chr4:g.54733133T>G | c.2425T>G | p.C809G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
KIT K642E KIT C809G KIT N822H | gastrointestinal stromal tumor | predicted - resistant | Imatinib | Case Reports/Case Series | Actionable | In a clinical case study, an acquired KIT C809G mutation was identified in a gastrointestinal stromal tumor (GIST) patient harboring KIT K642E and KIT N822H at the time of progression on Gleevec (imatinib) (PMID: 16954519). | 16954519 |
KIT exon 11 del KIT C809G | 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 C809G in culture (PMID: 38408285). | 38408285 |
KIT K550_V555del KIT V654A KIT C809G | gastrointestinal stromal tumor | predicted - resistant | Ripretinib | Case Reports/Case Series | Actionable | In a retrospective study, a patient with a gastrointestinal stromal tumor harboring KIT K550_V555del progressed on sixth-line treatment with Qinlock (ripretinib) after 18 months and was found to have acquired KIT K550_V555del and V654A KIT C809G in one metastatic lesion and KIT V654A in a second metastatic lesion (PMID: 38408285). | 38408285 |