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

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:
RCV000429980.1

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:
Polycythemia vera (PV)
Synonyms:
Polycythemia rubra vera; Polycythemia vera, somatic
Identifiers:
MONDO: MONDO:0009891; MeSH: D011087; MedGen: C0032463; Orphanet: 729; OMIM: 263300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000504803Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Oct 2, 2014)
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

JAK1 and Tyk2 activation by the homologous polycythemia vera JAK2 V617F mutation: cross-talk with IGF1 receptor.

Staerk J, Kallin A, Demoulin JB, Vainchenker W, Constantinescu SN.

J Biol Chem. 2005 Dec 23;280(51):41893-9. Epub 2005 Oct 19.

PubMed [citation]
PMID:
16239216

Details of each submission

From Database of Curated Mutations (DoCM), SCV000504803.1

#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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