Gene Variant Detail

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Gene IDH1
Variant S280F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IDH1 S280F does not lie within any known functional domains of the Idh1 protein (UniProt.org). S280F has been associated with acquired resistance to IDH inhibitors when occurred in cis with IDH1 R132C in a patient (PMID: 29950729), but has not been biochemically characterized and therefore, its effect on Idh1 protein function is unknown (PubMed, Mar 2020).
Associated Drug Resistance Y

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Transcript NM_005896
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 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
NM_001282386 chr2:g.208242005G>A c.839C>T p.S280F RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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 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
Molecular Profile Protein Effect Treatment Approaches
IDH1 S280F unknown
IDH1 R132C IDH1 S280F