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NM_000215.4(JAK3):c.394C>A (p.Pro132Thr) AND Lymphoblastic leukemia, acute, with lymphomatous features

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:
RCV000433061.2

Allele description [Variation Report for NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)]

NM_000215.4(JAK3):c.394C>A (p.Pro132Thr)

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.394C>A (p.Pro132Thr)
Other names:
p.P132T:CCA>ACA; NM_000215.4(JAK3):c.394C>A
HGVS:
  • NC_000019.10:g.17843406G>T
  • NG_007273.1:g.9586C>A
  • NM_000215.4:c.394C>AMANE SELECT
  • NP_000206.2:p.Pro132Thr
  • NP_000206.2:p.Pro132Thr
  • LRG_77t1:c.394C>A
  • LRG_77:g.9586C>A
  • LRG_77p1:p.Pro132Thr
  • NC_000019.9:g.17954215G>T
  • NM_000215.3:c.394C>A
  • P52333:p.Pro132Thr
Protein change:
P132T
Links:
UniProtKB: P52333#VAR_019336; dbSNP: rs3212723
NCBI 1000 Genomes Browser:
rs3212723
Molecular consequence:
  • NM_000215.4:c.394C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lymphoblastic leukemia, acute, with lymphomatous features (LALL)
Synonyms:
LYMPHOMATOUS ALL
Identifiers:
MONDO: MONDO:0009539; MedGen: C1855472; Orphanet: 513; OMIM: 247640

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000504895Database of Curated Mutations (DoCM)
no assertion criteria provided
Likely pathogenic
(Jul 14, 2015) 		somaticliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature 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

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

MacConaill LE, Garcia E, Shivdasani P, Ducar M, Adusumilli R, Breneiser M, Byrne M, Chung L, Conneely J, Crosby L, Garraway LA, Gong X, Hahn WC, Hatton C, Kantoff PW, Kluk M, Kuo F, Jia Y, Joshi R, Longtine J, Manning A, Palescandolo E, et al.

J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

PubMed [citation]
PMID:
25157968
PMCID:
PMC4210463

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504895.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024