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

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
4 (Most recent: Jul 18, 2016)
Last evaluated:
May 13, 2016
Accession:
VCV000376030.1
Variation ID:
376030
Description:
single nucleotide variant
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NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)

Allele ID
362909
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p31.3
Genomic location
1: 64846664 (GRCh38) GRCh38 UCSC
1: 65312347 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.65312347C>A
NC_000001.11:g.64846664C>A
NG_023402.2:g.226083G>T
... more HGVS
Protein change
V658F, V657F
Other names
-
Canonical SPDI
NC_000001.11:64846663:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16602499
dbSNP: rs1057519753
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided May 13, 2016 RCV000419919.1
Likely pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000429980.1
Likely pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000430797.1
Likely pathogenic 1 no assertion criteria provided Oct 2, 2014 RCV000440192.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
JAK1 - - GRCh38
GRCh37
47 75

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Polycythemia vera
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504803.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Lymphoblastic leukemia, acute, with lymphomatous features
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504804.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (4)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 13, 2016)
no assertion criteria provided
Method: literature only
Leukemia, acute, ?X-linked
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504805.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Oct 02, 2014)
no assertion criteria provided
Method: literature only
Acute myeloid leukemia
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000504806.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (2)
Other databases
http://docm.genome.wustl.edu/var…

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. Zhang J Blood 2011 PMID: 21680795
Sequencing a mouse acute promyelocytic leukemia genome reveals genetic events relevant for disease progression. Wartman LD The Journal of clinical investigation 2011 PMID: 21436584
Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. Mullighan CG Nature genetics 2009 PMID: 19838194
JAK mutations in high-risk childhood acute lymphoblastic leukemia. Mullighan CG Proceedings of the National Academy of Sciences of the United States of America 2009 PMID: 19470474
Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. Hornakova T The Journal of biological chemistry 2009 PMID: 19139102
JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor. Staerk J The Journal of biological chemistry 2005 PMID: 16239216
http://docm.genome.wustl.edu/variants/ENST00000342505:c.1972G>T - - - -

Text-mined citations for rs1057519753...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 20, 2021