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Gene | ALK |
Variant | S1206F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK S1206F lies within the protein kinase domain of the Alk protein (UniProt.org). S1206F has been identified in the scientific literature (PMID: 27565908), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2020). |
Associated Drug Resistance |
Transcript | NM_004304.4 |
gDNA | chr2:g.29220734G>A |
cDNA | c.3617C>T |
Protein | p.S1206F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29220734G>A | c.3617C>T | p.S1206F | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220734G>A | c.3617C>T | p.S1206F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK ALK S1206F | Advanced Solid Tumor | sensitive | Brigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Alunbrig (brigatinib) inhibited growth of transformed cells expressing ALK S1206F in the context of EML4-ALK in culture (PMID: 27780853). | 27780853 |
EML4 - ALK ALK T1151M ALK C1156Y ALK F1174L ALK G1202R ALK S1206F ALK G1269A | lung adenocarcinoma | predicted - resistant | Lorlatinib | Case Reports/Case Series | Actionable | In a clinical case study, Lorbrena (lorlatinib) treatment resulted in disease progression after 3.7 months therapy in a patient with lung adenocarcinoma harboring EML4-ALK and ALK G1202R, at disease progression, ALK F1174L in cis wth ALK G1202R was identified in biopsies, and ALK C1156Y, G1269A, S1206F, and T1151M were identified in ctDNA (PMID: 31585938). | 31585938 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ALK S1206F | unknown | |
EML4 - ALK ALK S1206F | Brigatinib | |
EML4 - ALK ALK T1151M ALK C1156Y ALK F1174L ALK G1202R ALK S1206F ALK G1269A |