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Gene | ALK |
Variant | L1152V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1152V lies within the protein kinase domain of the Alk protein (UniProt.org). L1152V is associated with decreased ALK inhibitor sensitivity in the context of an ALK fusion in culture (PMID: 22034911), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Mar 2022). |
Associated Drug Resistance |
Transcript | NM_004304.4 |
gDNA | chr2:g.29222405G>C |
cDNA | c.3454C>G |
Protein | p.L1152V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29222405G>C | c.3454C>G | p.L1152V | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222405G>C | c.3454C>G | p.L1152V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK L1152V ALK pos | lung non-small cell carcinoma | predicted - sensitive | Ensartinib | Case Reports/Case Series | Actionable | In a Phase II clinical trial, Ensartinib (X-396) treatment resulted in an objective response in 50% (2/4, all partial responses) and stable disease in 25% (1/4) of patients with ALK-positive non-small cell lung cancer harboring ALK L1152R (n=3) or L1152V (n=1) (PMID: 31628085; NCT0321569). | 31628085 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK L1152V | unknown | |
ALK L1152V ALK pos |