NM_005373.3(MPL):c.1069C>T (p.Arg357Ter) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Aug 25, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000818204.3

Allele description [Variation Report for NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)]

NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)

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.1069C>T (p.Arg357Ter)
HGVS:
  • NC_000001.11:g.43346533C>T
  • NG_007525.1:g.13730C>T
  • NM_005373.2:c.1069C>T
  • NM_005373.3:c.1069C>TMANE SELECT
  • NP_005364.1:p.Arg357Ter
  • NP_005364.1:p.Arg357Ter
  • LRG_510t1:c.1069C>T
  • LRG_510:g.13730C>T
  • LRG_510p1:p.Arg357Ter
  • NC_000001.10:g.43812204C>T
Protein change:
R357*
Links:
dbSNP: rs751975712
NCBI 1000 Genomes Browser:
rs751975712
Molecular consequence:
  • NM_005373.2:c.1069C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005373.3:c.1069C>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
SCV000958804Invitaecriteria provided, single submitter
Pathogenic
(Aug 25, 2020)
germlineclinical testing

PubMed (5)
[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

A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia.

Chung HS, Koh KN, Kim HJ, Kim HJ, Lee KO, Park CJ, Chi HS, Kim SH, Seo JJ, Im HJ.

Pediatr Blood Cancer. 2011 Feb;56(2):304-6. doi: 10.1002/pbc.22842.

PubMed [citation]
PMID:
21162090

A novel frameshift mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia.

Liu R, Jin C, Huang B, Wu J, Shi X.

Pediatr Blood Cancer. 2018 Jun;65(6):e26961. doi: 10.1002/pbc.26961. Epub 2018 Jan 31. No abstract available.

PubMed [citation]
PMID:
29384262
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV000958804.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Arg357*) in the MPL gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs751975712, ExAC 0.01%). This variant has been observed in individuals affected with congenital amegakaryocytic thrombocytopenia (PMID: 21162090, 29384262). ClinVar contains an entry for this variant (Variation ID: 660904). 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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