JAK2 V617F

CI-VAR-00004588Explore in graph →NP_004963.1:p.Val617PheNM_004972.3:c.1849G>TClinVar 14662 CIViC 64 rs77375493

Curated evidence

Evidence by cancer (6 items)

Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.

civicCuratedShowing 1–6 of 6 evidence items across 4 cancer contexts on this page · levels, directions and significance as curated at the source; each row links to its CIViC record.

Molecular profile	Therapy	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
Chronic Myeloid Leukemia, BCR-ABL1 Positive2
JAK2 V617F	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID5 JAK2 V617F is associated with myeloid malignanices (AML, MDS, CMML/atypical CML). PMID 16081687 · Levine et al., 2005 · Open in CIViC	civic
JAK2 V617F	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID6 JAK2 V617F is associated with myeloid neoplasms (AML, MDS, CMML/aCML). PMID 16081687 · Levine et al., 2005 · Open in CIViC	civic
Lymphoid Leukemia1
JAK2 V617F	(diagnostic)

ClinVar

Clinical significance (1)

ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.

clinvarCurated1 interpretation · review status and star rating as assigned by ClinVar.

Variation	Clinical significance	Review status	Stars	Conditions	Origin	Submitters	Last evaluated	Source
14662	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts	2	Acquired polycythemia vera; Primary myelofibrosis; Acute myeloid leukemia; Budd-Chiari syndrome, susceptibility to, somatic; Primary familial polycythemia due to EPO receptor mutation; Thrombocythemia 3; Myeloproliferative disorder; Splenomegaly; Polycythemia; JAK2-related disorder	germline/somatic	23

Malignant Bone Marrow Neoplasm1
JAK2 V617F	(diagnostic)	Diagnostic	B	Supports Positive	4	accepted	EID7 The SNP rs10974944 in the Jak2 locus is associated with increased predisposition for JAK2 V617F mutation and its associated cancer. PMID 19287384 · Kilpivaara et al., 2009 · Open in CIViC	civic

Polycythemia Vera2
JAK2 V617F	Fedratinib	Predictive	D	Supports Sensitivity Response	3	accepted	EID20 TG101348 effectively inhibits STAT5 signaling in JAK2 V617F cells. PMID 18394554 · Wernig et al., 2008 · Open in CIViC	civic
JAK2 V617F	Peginterferon Alfa-2b	Predictive	B	Supports Sensitivity Response	4	accepted	EID19 In patients with JAK2 V617F, the use of pegylated IFN-alpha-2a leads to reduction in the percentage of cells harboring JAK2 V617F. PMID 16709929 · Kiladjian et al., 2006 · Open in CIViC	civic