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Gene | ALK |
Variant | L1319V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1319V lies within the protein kinase domain of the Alk protein (UniProt.org). L1319V has been identified in the scientific literature (PMID: 33776709), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK L1319V |
Transcript | NM_004304.5 |
gDNA | chr2:g.29197660G>C |
cDNA | c.3955C>G |
Protein | p.L1319V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.5 | chr2:g.29197660G>C | c.3955C>G | p.L1319V | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29197660G>C | c.3955C>G | p.L1319V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK ALK L1319V | colon adenocarcinoma | predicted - resistant | Alectinib | Case Reports/Case Series | Actionable | In a clinical case study, a patient with colon adenocarcinoma harboring EML4-ALK developed progressive disease after 8 months of Alecensa (alectinib) treatment, acquisition of ALK L1319V, KRAS amplification, KRAS Q61H, and NF1 Q20* were identified in post-progression biopsies (PMID: 33776709). | 33776709 |