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Gene | ALK |
Variant | F1245I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK F1245I lies within the protein kinase domain of the Alk protein (UniProt.org). F1245I has been identified in the scientific literature (PMID: 30778092, PMID: 34282791, PMID: 37523146), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK F1245X ALK F1245I |
Transcript | NM_004304.5 |
gDNA | chr2:g.29213994A>T |
cDNA | c.3733T>A |
Protein | p.F1245I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29213994A>T | c.3733T>A | p.F1245I | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29213994A>T | c.3733T>A | p.F1245I | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29213994A>T | c.3733T>A | p.F1245I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK F1245I | neuroblastoma | sensitive | Lorlatinib | Case Reports/Case Series | Actionable | In a clinical study, Lorbrena (lorlatinib) treatment resulted in a partial response in a pediatric patient with neuroblastoma harboring ALK F1245I, inhibited viability of patient-derived cells in culture, decreased tumor growth and prolonged event-free survival in a patient-derived xenograft model (PMID: 37523146; NCT03336931). | 37523146 |
ALK F1245I | neuroblastoma | sensitive | Ceritinib | Preclinical - Pdx & cell culture | Actionable | In a preclinical study, Zykadia (ceritinib) inhibited viability of patient-derived neuroblastoma cells harboring ALK F1245I in culture and inhibited tumor growth in a patient-derived xenograft model (PMID: 37523146). | 37523146 |
ALK F1245I | neuroblastoma | sensitive | Crizotinib | Preclinical - Pdx & cell culture | Actionable | In a preclinical study, Xalkori (crizotinib) inhibited viability of patient-derived neuroblastoma cells harboring ALK F1245I in culture, inhibited tumor growth, and prolonged event-free survival in a patient-derived xenograft model (PMID: 37523146). | 37523146 |
ALK F1245I | neuroblastoma | sensitive | Alectinib | Preclinical - Pdx & cell culture | Actionable | In a preclinical study, Alecensa (alectinib) inhibited viability of patient-derived neuroblastoma cells harboring ALK F1245I in culture, inhibited tumor growth, and prolonged event-free survival in a patient-derived xenograft model (PMID: 37523146). | 37523146 |