NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Hematologic neoplasm

Clinical significance:Likely pathogenic (Last evaluated: Dec 26, 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:
RCV000422740.1

Allele description [Variation Report for NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)]

NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)

Gene:
MPL:MPL proto-oncogene, thrombopoietin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
HGVS:
  • NC_000001.11:g.43349338G>T
  • NG_007525.1:g.16535G>T
  • NM_005373.2:c.1544G>T
  • NM_005373.3:c.1544G>TMANE SELECT
  • NP_005364.1:p.Trp515Leu
  • NP_005364.1:p.Trp515Leu
  • LRG_510t1:c.1544G>T
  • LRG_510:g.16535G>T
  • LRG_510p1:p.Trp515Leu
  • NC_000001.10:g.43815009G>T
  • P40238:p.Trp515Leu
Protein change:
W515L; TRP515LEU
Links:
UniProtKB: P40238#VAR_067561; OMIM: 159530.0011; dbSNP: rs121913615
NCBI 1000 Genomes Browser:
rs121913615
Molecular consequence:
  • NM_005373.2:c.1544G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005373.3:c.1544G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hematologic neoplasm
Synonyms:
Hematologic cancer; Hematological neoplasm; Hematological malignancies
Identifiers:
MeSH: D019337; MedGen: C0376545; Human Phenotype Ontology: HP:0004377

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000505203Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Dec 26, 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

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

Pikman Y, Lee BH, Mercher T, McDowell E, Ebert BL, Gozo M, Cuker A, Wernig G, Moore S, Galinsky I, DeAngelo DJ, Clark JJ, Lee SJ, Golub TR, Wadleigh M, Gilliland DG, Levine RL.

PLoS Med. 2006 Jul;3(7):e270.

PubMed [citation]
PMID:
16834459
PMCID:
PMC1502153

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505203.1

#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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