NM_005373.3(MPL):c.127C>T (p.Arg43Ter) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jul 19, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001248333.2

Allele description [Variation Report for NM_005373.3(MPL):c.127C>T (p.Arg43Ter)]

NM_005373.3(MPL):c.127C>T (p.Arg43Ter)

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.127C>T (p.Arg43Ter)
HGVS:
  • NC_000001.11:g.43338146C>T
  • NG_007525.1:g.5343C>T
  • NM_005373.2:c.127C>T
  • NM_005373.3:c.127C>TMANE SELECT
  • NP_005364.1:p.Arg43Ter
  • NP_005364.1:p.Arg43Ter
  • LRG_510t1:c.127C>T
  • LRG_510:g.5343C>T
  • LRG_510p1:p.Arg43Ter
  • NC_000001.10:g.43803817C>T
  • NM_005373.3:c.127C>T
Protein change:
R43*
Links:
dbSNP: rs148434485
NCBI 1000 Genomes Browser:
rs148434485
Molecular consequence:
  • NM_005373.2:c.127C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005373.3:c.127C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Congenital amegakaryocytic thrombocytopenia (CAMT)
Identifiers:
MONDO: MONDO:0011469; MedGen: C1327915; Orphanet: 3319; OMIM: 604498
Name:
essential thrombocytemia
Identifiers:
MONDO: MONDO:0005029; MeSH: D013920; MedGen: C0040028

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001421808Invitaecriteria provided, single submitter
Pathogenic
(Jul 19, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

Germeshausen M, Ballmaier M, Welte K.

Hum Mutat. 2006 Mar;27(3):296.

PubMed [citation]
PMID:
16470591

Thrombocytopenia in c-mpl-deficient mice.

Gurney AL, Carver-Moore K, de Sauvage FJ, Moore MW.

Science. 1994 Sep 2;265(5177):1445-7.

PubMed [citation]
PMID:
8073287
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV001421808.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This sequence change creates a premature translational stop signal (p.Arg43*) in the MPL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs148434485, ExAC 0.02%). This variant has been observed in individual(s) with congenital amegakaryocytic thrombocytopenia (PMID: 11133753, 16470591). ClinVar contains an entry for this variant (Variation ID: 371574). Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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