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Gene IDH1
Variant S280F
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IDH1 S280F does not lie within any known functional domains of the Idh1 protein (UniProt.org). S280F confers resistance to an IDH1 inhibitor in the presence of IDH1 R132C/H (PMID: 29950729, PMID: 32380538, PMID: 36222845), but does not lead to increased production of the oncometabolite 2HG (R(-)-2-hydroxyglutarate) in cell culture (PMID: 36222845), and therefore, is predicted to have no effect on Idh1 protein function.
Associated Drug Resistance Y
Category Variants Paths

IDH1 mutant IDH1 S280F

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Transcript NM_005896.4
gDNA chr2:g.208242005G>A
cDNA c.839C>T
Protein p.S280F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005896.3 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282386.1 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_005896.4 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_005896 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282386 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282387.1 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38
NM_001282387 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
IDH1 R132C IDH1 S280F acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a clinical case study, a patient with acute myeloid leukemia (AML) harboring IDH1 R132C progressed following an initial response to treatment with Tibsovo (ivosidenib), and was found to have acquired IDH1 S280F (PMID: 33832922). 33832922
IDH1 R132C IDH1 S280F acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a clinical study, IDH1 S280F was identified as an acquired mutation in cis with the original IDH1 R132C in a patient with acute myeloid leukemia (AML), who developed resistance to Tibsovo (ivosidenib) after initial response (PMID: 29950729). 29950729
IDH1 R132C IDH1 S280F acute myeloid leukemia predicted - resistant Ivosidenib Case Reports/Case Series Actionable In a Phase I trial, IDH1 S280F was identified at progression in 3 patients with acute myeloid leukemia harboring IDH1 R132C who previously responded to Tibsovo (ivosidenib) treatment (PMID: 32380538; NCT02074839). 32380538
IDH1 R132H IDH1 S280F leukemia predicted - resistant Ivosidenib Preclinical - Biochemical Actionable In a preclinical study, Tibsovo (ivosidenib) did not inhibit Idh1 activity and R-2HG production in a leukemia cell line expressing IDH1 R132H and S280F in culture (PMID: 36222845). 36222845