NM_002227.4(JAK1):c.1972G>T (p.Val658Phe) AND Lymphoblastic leukemia, acute, with lymphomatous features

Clinical significance:Likely pathogenic (Last evaluated: Oct 2, 2014)

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:
RCV000440192.1

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504804Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Oct 2, 2014)
somaticliterature only

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia.

Mullighan CG, Collins-Underwood JR, Phillips LA, Loudin MG, Liu W, Zhang J, Ma J, Coustan-Smith E, Harvey RC, Willman CL, Mikhail FM, Meyer J, Carroll AJ, Williams RT, Cheng J, Heerema NA, Basso G, Pession A, Pui CH, Raimondi SC, Hunger SP, Downing JR, et al.

Nat Genet. 2009 Nov;41(11):1243-6. doi: 10.1038/ng.469. Epub 2009 Oct 18.

PubMed [citation]
PMID:
19838194
PMCID:
PMC2783810

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
See all PubMed Citations (4)

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504804.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

Support Center