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JAK2 codon(s) 683 missense
GeneJAK2
Variantmissense
Transcript ID (GRCh37/hg19)ENST00000381652
Codon683
Exon16
Genomic Coordinates (GRCh37/hg19)9:5078360-5078362
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 1
JAK2
Variants
JAK2 codon(s) 683 missense
JAK2 any mutation
Primary Sites
Bone Marrow
Blood
Tumor Types
B Lymphoblastic Leukemia/Lymphoma
Interpretation

Mutations at codon R683 of JAK2, have been previously described in B-ALL (especially Down Syndrome associated B-ALL) and represent a mutational "hotspot"; Some variants at this codon (R683) are known to be activating mutations. Cases of B-ALL with JAK2 mutations tend to also show rearrangement/overexpression of CRLF2; these are potentially targetable pathway alterations. Such cases tend to have a BCR/ABL-like transcriptional signature.

Last updated: 2018-11-12 20:41:32 UTC
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Tier 3
JAK2
Variants
JAK2 codon(s) 683 missense
Primary Sites
Thyroid
Tumor Types
Papillary Carcinoma
Interpretation

JAK2 is a non-receptor tyrosine kinase that mediates signaling via the JAK-STAT pathway and the somatic, activating mutation V617F in the pseudokinase domain of JAK2 has been reported in over 90% of patients with polycythemia vera, 40-70% of essential thrombocytemia and 40-60% of primary myelofibrosis. JAK2 mutations have not been described in papillary thyroid carcinomas. Moreover, this variant has high prevalence in the East Asian population, and thus is predicted be a germline variant. Clinical correlation with other laboratory findings is recommended.

Last updated: 2019-01-22 19:23:59 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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