Variant "IDH2:c.124A>T(p.Arg172Trp)"
Search result: 1 record
Variant information
Gene:
IDH2 
Variant:
IDH2:c.124A>T(p.Arg172Trp) 
Genomic location:
chr15:90631839(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001290114.1:c.124A>T(p.Arg42Trp)
protein_coding NM_002168.3:c.514A>T(p.Arg172Trp)
protein_coding NM_001289910.1:c.358A>T(p.Arg120Trp)
protein_coding 4JA8:A_172-A_310:NM_002168.3:c.514A>T
protein_coding 4JA8:B_172-B_310:NM_002168.3:c.514A>T
protein_coding NM_002168.3:c.514A>T
show all
dbSNP ID:
rs1057519906  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Acute Myeloid Leukemia (DOID_9119)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    From review article 
    Effect:
    Somatic mutations in epigenetic modifiers, including IDH1, IDH2, TET2, DNAMT3A, ASXL1, MLL and EZH2 are enriched in patients with acute myeloid leukemia (AML), especially those with intermediate-risk cytogenetics
    Reference:
    PMID26789100
    Title:
    Mutations in epigenetic modifiers in acute myeloid leukemia and their clinical utility.
    Species studied:
    Human
    Abstract:
    Recent studies have identified recurrent mutations in genes that encode proteins crucial in the epigenetic regulation of gene transcription in hematologic malignancies. Somatic mutations in epigenetic modifiers, including IDH1, IDH2, TET2, DNAMT3A, ASXL1, MLL and EZH2 are enriched in patients with acute myeloid leukemia (AML), especially those with intermediate-risk cytogenetics. Here we describe the clinic-biologic features of AML patients with these mutations, their prognostic relevance and potential as therapeutic targets. The epigenetic alterations are present as the early pre-leukemic events and usually remain stable during disease evolution, implying the potential to be biomarkers for minimal residual disease monitoring. The high frequency of mutations in epigenetic modifiers and their prognostic implications shed light on the development of epigenetic therapy.