JAK2 V617F - GET-Evidence

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JAK2 V617F

(JAK2 Val617Phe)

You are viewing an old version of this page that was saved on December 29, 2011 at 4:57pm by Madeleine Ball.

Short summary


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


Insufficiently evaluated pathogenic

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

Inheritance pattern


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)


Edited in this revision:

Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, Scott MA, Erber WN, Green AR; Cancer Genome Project. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005 Mar 19-25;365(9464):1054-61. Erratum in: Lancet. 2005 Jul 9-15;366(9480):122. PubMed PMID: 15781101.

This variant was found in a large number of cases of myeloproliferative disorders: 71 of 73 patients with polycythaemia vera (97%), 29 of 51 with essential thombocythaemia (57%), and 8 of 16 with idiopathic myelofibrosis (50%). The mutation was detected in granulocytes, which are descended from a myeloid precursor. In 30 cases T-cells (instead descending from a lymphoid precursor) were tested and found not to carry the mutation, indicating this variant is always, or almost always, an acquired mutation and not inherited.

The mutation was not detected in 90 control samples (from a population with type I diabetes).


Other external references

  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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) ...
    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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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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