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NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) AND JAK2-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004751211.1

Allele description [Variation Report for NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)]

NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)

Genes:
JAK2:Janus kinase 2 [Gene - OMIM - HGNC]
INSL6:insulin like 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.1
Genomic location:
Preferred name:
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
HGVS:
  • NC_000009.12:g.5073770G>T
  • NG_009904.1:g.93526G>T
  • NG_046969.1:g.116941C>A
  • NM_001322194.2:c.1849G>T
  • NM_001322195.2:c.1849G>T
  • NM_001322196.2:c.1849G>T
  • NM_001322198.2:c.634G>T
  • NM_001322199.2:c.634G>T
  • NM_001322204.2:c.1402G>T
  • NM_004972.4:c.1849G>TMANE SELECT
  • NP_001309123.1:p.Val617Phe
  • NP_001309124.1:p.Val617Phe
  • NP_001309125.1:p.Val617Phe
  • NP_001309127.1:p.Val212Phe
  • NP_001309128.1:p.Val212Phe
  • NP_001309133.1:p.Val468Phe
  • NP_004963.1:p.Val617Phe
  • NP_004963.1:p.Val617Phe
  • LRG_612t1:c.1849G>T
  • JAK2:c.1849G>T,p.Val617Phe)
  • LRG_612:g.93526G>T
  • LRG_612p1:p.Val617Phe
  • NC_000009.11:g.5073770G>T
  • NM_004972.3:c.1849G>T
  • NR_169763.1:n.2333G>T
  • NR_169764.1:n.2250G>T
  • O60674:p.Val617Phe
Protein change:
V212F; VAL617PHE
Links:
Genetic Testing Registry (GTR): GTR000056468; UniProtKB: O60674#VAR_032697; OMIM: 147796.0001; dbSNP: rs77375493
NCBI 1000 Genomes Browser:
rs77375493
Molecular consequence:
  • NM_001322194.2:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322195.2:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322196.2:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322198.2:c.634G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322199.2:c.634G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322204.2:c.1402G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004972.4:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_169763.1:n.2333G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169764.1:n.2250G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
JAK2-related disorder
Synonyms:
JAK2-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005351640PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Apr 30, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005351640.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The JAK2 c.1849G>T variant is predicted to result in the amino acid substitution p.Val617Phe. This variant has been reported to be present in almost all patients with polycythemia vera and more than half of those with essential thrombocytosis and primary myelofibrosis (Vassiliou 2016. PubMed ID: 27563148). Somatic c.1849G>T variants have been reported in myeloproliferative neoplasms (Ortmann et al. 2015. PubMed ID: 25671252; Rumi et al. 2014. PubMed ID: 24986690). This variant is reported in 0.058% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024