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Gene | ALK |
Variant | G1123S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK G1123S lies within the protein kinase domain of the Alk protein (UniProt.org). G1123S has been demonstrated to confer drug resistance in culture (PMID: 26134233, PMID: 21948233), 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 G1123S |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222600C>T |
cDNA | c.3367G>A |
Protein | p.G1123S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29222600C>T | c.3367G>A | p.G1123S | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222600C>T | c.3367G>A | p.G1123S | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222600C>T | c.3367G>A | p.G1123S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK rearrange ALK G1123S | lung adenocarcinoma | predicted - resistant | Ceritinib | Case Reports/Case Series | Actionable | In a clinical case study, ALK G1123S was identified as an acquired mutation in a patient with ALK-rearranged lung adenocarcinoma whose disease relapsed 2 years after initial response to Zykadia (ceritinib) (PMID: 26134233). | 26134233 |
ALK rearrange ALK G1123S | lung adenocarcinoma | predicted - sensitive | Alectinib | Case Reports/Case Series | Actionable | In a clinical case study, Alecensa (alectinib) treatment resulted in rapid response in a patient with ALK-rearranged lung adenocarcinoma with an acquired ALK G1123S mutation, whose disease had relapsed 2 years after initial response to Zykadia (ceritinib) (PMID: 26134233). | 26134233 |
ALK G1123S ALK F1174L | neuroblastoma | resistant | TAE684 | Preclinical - Cell culture | Actionable | In a preclinical study, expression of ALK G1123S in neuroblastoma cells harboring an ALK F1174L mutation resulted in resistance to TAE684 in culture (PMID: 21948233). | 21948233 |
EML4 - ALK ALK G1123S | Advanced Solid Tumor | sensitive | Ensartinib | Preclinical - Cell culture | Actionable | In a preclinical study, Ensacove (ensartinib) inhibited viability of a cell line expressing EML4-ALK with ALK G1123S in culture (PMID: 31446141). | 31446141 |
EML4 - ALK ALK G1123S | Advanced Solid Tumor | sensitive | Crizotinib | Preclinical - Cell culture | Actionable | In a preclinical study, Xalkori (crizotinib) inhibited viability of a cell line expressing EML4-ALK with ALK G1123S in culture (PMID: 31446141). | 31446141 |
EML4 - ALK ALK G1123S | Advanced Solid Tumor | resistant | Ceritinib | Preclinical - Cell culture | Actionable | In a preclinical study, a cell line expressing EML4-ALK with ALK G1123S was resistant to Zykadia (ceritinib) in culture (PMID: 31446141). | 31446141 |
EML4 - ALK ALK G1123S | Advanced Solid Tumor | sensitive | Alectinib | Preclinical - Cell culture | Actionable | In a preclinical study, Alecensa (alectinib) inhibited viability of a cell line expressing EML4-ALK with ALK G1123S in culture (PMID: 31446141). | 31446141 |
EML4 - ALK ALK G1123S | Advanced Solid Tumor | sensitive | Brigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Alunbrig (brigatinib) inhibited viability of a cell line expressing EML4-ALK with ALK G1123S in culture (PMID: 31446141). | 31446141 |
EML4 - ALK ALK G1123S | Advanced Solid Tumor | sensitive | Lorlatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lorbrena (lorlatinib) inhibited viability of a cell line expressing EML4-ALK with ALK G1123S in culture (PMID: 31446141). | 31446141 |