NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) AND Congenital amegakaryocytic thrombocytopenia

Clinical significance:Pathogenic (Last evaluated: Oct 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000501989.2

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:
Congenital amegakaryocytic thrombocytopenia (CAMT)
Identifiers:
MONDO: MONDO:0011469; MedGen: C1327915; Orphanet: 3319; OMIM: 604498

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000595823Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Pathogenic
(Oct 14, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000595823.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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