JAK2 V617F - GET-Evidence

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Curation:

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Currentness:

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JAK2 V617F

(JAK2 Val617Phe)


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Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr9:5073770: 0.0% (3/10756) in EVS
  • Frequency shown in summary reports: 0.0% (3/10756)

Publications
 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.997 (probably damaging)
    Web search results (65200 hits -- see all)
  • A Unique Activating Mutation in JAK2 (V617F) Is at the Origin ...
    A Unique Activating Mutation in JAK2 (V617F) Is at the Origin of Polycythemia Vera and Allows a New Classification of Myeloproliferative Diseases ...
    asheducationbook.hematologylibrary.org/cgi/content/full/...
  • JAK2, the JAK2 V617F mutant and cytokine receptors.
    In JAK2-deficient cells, we showed that JAK2 V617F can transmit signals from ligand-activated TpoR or EpoR. ... A synergy between JAK2 V617F and insulin-like growth factor 1 ...
    www.ncbi.nlm.nih.gov/pubmed/16904848
  • JAK2 Assay, Cincinnati Children's Hospital Medical Center
    The Division of Human Genetics at Cincinnati Children's offers JAK2 genetics testing. ... A specific mutation in the JAK2 gene, known as V617F, has been found to be present in a ...
    cincinnatichildrens.org/svc/alpha/m/.../jak2-assay.htm
  • JAK2 V617F Mutation in Patients With Catastrophic ...
    Abstract and Introduction: Study results highlight the diagnostic usefulness of JAK2 V617F testing in this setting and underscore the clinical significance of a ...
    www.medscape.com/viewarticle/556664
  • Clinical relevance of JAK2 (V617F) mutant allele burden
    Homozygous JAK2 (V617F) erythroid colonies are present in most patients with PV, but ... Schematic representation of JAK2 (V617F) allele burden (middle panel) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2625431
  • Biomarker: PROFILING LEUKEMIA
    JAK2 MutaScreen™ assays allow qualitative and semi-quantitative detection of the JAK2 V617F mutation from ... Sensitive and highly specific detection of the JAK2 V617F mutation ...
    ipsogen.com/leukemia-products/healthcare-professionnals/...
  • JAK2 V617F and Exons 12, 13 Mutation Analysis
    The JAK2 tyrosine kinase (V617F) was detected in most patients (greater than 80 percent) ... This assays detects the JAK2 V617F and exon 12 mutations, which helps ...
    www.ameripath.com/display.aspx?catid=1,9,18&testid=57
  • Blood -- The myeloproliferative disorder associated JAK2 ...
    The somatic JAK2 valine-to-phenylalanine (V617F) mutation has been ... The somatic valine-to-phenylalanine (V617F) mutation in JAK2 has been associated with a ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../4924
  • JAK2 V617F Mutation Detection
    The JAK2 V617F somatic mutation is found in nucleated myeloid cells and erythrocytic ... The presence of JAK2 V617F is also useful in the diagnosis of ET or ...
    medicine.uiowa.edu/path_Handbook/lab_bulletins/.../jak2.html
  • Characterization of JAK2 V617F Allele Burden in Advanced ...
    Barosi G, Bergamaschi G, Marchetti M, et al. JAK2 V617F mutational status. predicts progression to large splenomegaly and leukemic transformation in ...
    library.corporate-ir.net/.../ASH 2008 - Poster 2802.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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