NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) AND Leukemia, acute, ?X-linked

Clinical significance:Likely pathogenic (Last evaluated: May 13, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000419919.1

Allele description [Variation Report for NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)]

NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)

Gene:
JAK1:Janus kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.3
Genomic location:
Preferred name:
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)
HGVS:
  • NC_000001.11:g.64846664C>A
  • NG_023402.2:g.226083G>T
  • NM_001320923.2:c.1972G>T
  • NM_001321852.2:c.1972G>T
  • NM_001321853.2:c.1972G>T
  • NM_001321854.2:c.1972G>T
  • NM_001321855.2:c.1972G>T
  • NM_001321856.2:c.1972G>T
  • NM_001321857.2:c.1969G>T
  • NM_002227.4:c.1972G>TMANE SELECT
  • NP_001307852.1:p.Val658Phe
  • NP_001308781.1:p.Val658Phe
  • NP_001308782.1:p.Val658Phe
  • NP_001308783.1:p.Val658Phe
  • NP_001308784.1:p.Val658Phe
  • NP_001308785.1:p.Val658Phe
  • NP_001308786.1:p.Val657Phe
  • NP_002218.2:p.Val658Phe
  • LRG_1398t1:c.1972G>T
  • LRG_1398:g.226083G>T
  • LRG_1398p1:p.Val658Phe
  • NC_000001.10:g.65312347C>A
Protein change:
V657F
Links:
dbSNP: rs1057519753
NCBI 1000 Genomes Browser:
rs1057519753
Molecular consequence:
  • NM_001320923.2:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321852.2:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321853.2:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321854.2:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321855.2:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321856.2:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321857.2:c.1969G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002227.4:c.1972G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leukemia, acute, ?X-linked
Identifiers:
MONDO: MONDO:0700060; MedGen: C3501854; OMIM: 308960

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504805Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(May 13, 2016)
somaticliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers.

Hornakova T, Staerk J, Royer Y, Flex E, Tartaglia M, Constantinescu SN, Knoops L, Renauld JC.

J Biol Chem. 2009 Mar 13;284(11):6773-81. doi: 10.1074/jbc.M807531200. Epub 2009 Jan 12.

PubMed [citation]
PMID:
19139102
PMCID:
PMC2652315

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504805.1

#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: Nov 20, 2021

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