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NM_000215.4(JAK3):c.1503G>T (p.Gln501His) AND Leukemoid reaction

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 13, 2016
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:
RCV000419033.2

Allele description [Variation Report for NM_000215.4(JAK3):c.1503G>T (p.Gln501His)]

NM_000215.4(JAK3):c.1503G>T (p.Gln501His)

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.1503G>T (p.Gln501His)
HGVS:
  • NC_000019.10:g.17838329C>A
  • NG_007273.1:g.14663G>T
  • NM_000215.4:c.1503G>TMANE SELECT
  • NP_000206.2:p.Gln501His
  • NP_000206.2:p.Gln501His
  • LRG_77t1:c.1503G>T
  • LRG_77:g.14663G>T
  • LRG_77p1:p.Gln501His
  • NC_000019.9:g.17949138C>A
  • NM_000215.3:c.1503G>T
Protein change:
Q501H
Links:
dbSNP: rs201283129
NCBI 1000 Genomes Browser:
rs201283129
Molecular consequence:
  • NM_000215.4:c.1503G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leukemoid reaction
Identifiers:
MONDO: MONDO:0006829; MeSH: D007955; MedGen: C0023501

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000505114Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(May 13, 2016) 		somaticliterature only

PubMed (1)
[See all records that cite this PMID]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome.

Sato T, Toki T, Kanezaki R, Xu G, Terui K, Kanegane H, Miura M, Adachi S, Migita M, Morinaga S, Nakano T, Endo M, Kojima S, Kiyoi H, Mano H, Ito E.

Br J Haematol. 2008 May;141(5):681-8. doi: 10.1111/j.1365-2141.2008.07081.x. Epub 2008 Apr 7.

PubMed [citation]
PMID:
18397343

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505114.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024