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Gene | ALK |
Variant | A1200_G1201delinsW |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | ALK A1200_G1201delinsW results in deletion of an alanine (A) and a glycine (G) from aa 1200 to aa 1201 in the protein kinase domain of the Alk protein, combined with the insertion of a tryptophan (W) at the same site (UniProt.org). A1200_G1201delinsW has been associated with secondary drug resistance to some ALK inhibitors (PMID: 34548910), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK A1200_G1201delinsW |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220748_29220753delinsCCA |
cDNA | c.3598_3603delinsTGG |
Protein | p.A1200_G1201delinsW |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29220748_29220753delinsCCA | c.3598_3603delinsTGG | p.A1200_G1201delinsW | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220748_29220753delinsCCA | c.3598_3603delinsTGG | p.A1200_G1201delinsW | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK ALK A1200_G1201delinsW | lung adenocarcinoma | predicted - resistant | Alectinib | Case Reports/Case Series | Actionable | In a clinical case study, post treatment biopsy analysis of a lung adenocarcinoma patient initially harboring EML4-ALK who developed progressive disease after 20 months of Alecensa (alectinib) treatment revealed acquisition of ALK A1200_G1201delinsW (PMID: 34548910). | 34548910 |
EML4 - ALK ALK A1200_G1201delinsW | lung adenocarcinoma | predicted - sensitive | Brigatinib | Case Reports/Case Series | Actionable | In a clinical case study, a lung adenocarcinoma patient harboring EML4-ALK who developed resistance to Alecensa (alectinib) following acquisition of ALK A1200_G1201delinsW demonstrated symptom improvement and stable disease for 4 months with Alunbrig (brigatinib) treatment (PMID: 34548910). | 34548910 |