NM_000215.4(JAK3):c.1715C>T (p.Ala572Val) AND Myeloproliferative neoplasm

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 14, 2015
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:: RCV000439577.1

Allele description

NM_000215.4(JAK3):c.1715C>T (p.Ala572Val)

Gene:

JAK3:Janus kinase 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_000215.4(JAK3):c.1715C>T (p.Ala572Val)

HGVS:

NC_000019.10:g.17837200G>A
NG_007273.1:g.15792C>T
NM_000215.4:c.1715C>TMANE SELECT
NP_000206.2:p.Ala572Val
LRG_77:g.15792C>T
NC_000019.9:g.17948009G>A

Protein change:

A572V

Links:

dbSNP: rs121913504

NCBI 1000 Genomes Browser:

rs121913504

Molecular consequence:

NM_000215.4:c.1715C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Myeloproliferative neoplasm
Identifiers:: MONDO: MONDO:0020076; MedGen: C1292778

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000504893	Database of Curated Mutations (DoCM)	no assertion criteria provided	Likely pathogenic (Jul 14, 2015)	somatic	literature only	PubMed (4) [See all records that cite these PMIDs] 20372971, 22271575, 20385788, 25157968 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000504893

Database of Curated Mutations (DoCM)

no assertion criteria provided

Likely pathogenic
(Jul 14, 2015)

somatic

literature only

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Preclinical characterization of atiprimod, a novel JAK2 AND JAK3 inhibitor.

Quintás-Cardama A, Manshouri T, Estrov Z, Harris D, Zhang Y, Gaikwad A, Kantarjian HM, Verstovsek S.

Invest New Drugs. 2011 Oct;29(5):818-26. doi: 10.1007/s10637-010-9429-z. Epub 2010 Apr 7.

PubMed [citation]

PMID:: 20372971
PMCID:: PMC4170651

Genetic resistance to JAK2 enzymatic inhibitors is overcome by HSP90 inhibition.

Weigert O, Lane AA, Bird L, Kopp N, Chapuy B, van Bodegom D, Toms AV, Marubayashi S, Christie AL, McKeown M, Paranal RM, Bradner JE, Yoda A, Gaul C, Vangrevelinghe E, Romanet V, Murakami M, Tiedt R, Ebel N, Evrot E, De Pover A, Régnier CH, et al.

J Exp Med. 2012 Feb 13;209(2):259-73. doi: 10.1084/jem.20111694. Epub 2012 Jan 23.

PubMed [citation]

PMID:: 22271575
PMCID:: PMC3280877

See all PubMed Citations (4)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504893.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (4)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 13, 2023

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