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

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 19, 2021)
Last evaluated:
Apr 29, 2021
Accession:
VCV000660904.4
Variation ID:
660904
Description:
single nucleotide variant
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NM_005373.3(MPL):c.1069C>T (p.Arg357Ter)

Allele ID
627884
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.2
Genomic location
1: 43346533 (GRCh38) GRCh38 UCSC
1: 43812204 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.43812204C>T
NM_005373.2:c.1069C>T NP_005364.1:p.Arg357Ter nonsense
NC_000001.11:g.43346533C>T
... more HGVS
Protein change
R357*
Other names
-
Canonical SPDI
NC_000001.11:43346532:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00000
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
dbSNP: rs751975712
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 25, 2020 RCV000818204.3
Pathogenic 1 criteria provided, single submitter Apr 29, 2021 RCV001420932.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MPL - - GRCh38
GRCh37
300 314

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 25, 2020)
criteria provided, single submitter
Method: clinical testing
essential thrombocytemia
Congenital amegakaryocytic thrombocytopenia
Allele origin: germline
Invitae
Accession: SCV000958804.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
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 … (more)
Pathogenic
(Apr 29, 2021)
criteria provided, single submitter
Method: clinical testing
Congenital amegakaryocytic thrombocytopenia
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001623391.1
Submitted: (May 19, 2021)
Evidence details
Publications
PubMed (5)
Comment:
Variant summary: MPL c.1069C>T (p.Arg357X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients. Germeshausen M Haematologica 2021 PMID: 32703794
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms. Kim B PloS one 2019 PMID: 30840646
Pathogenic Germline Variants in 10,389 Adult Cancers. Huang KL Cell 2018 PMID: 29625052
A novel frameshift mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. Liu R Pediatric blood & cancer 2018 PMID: 29384262
A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. Chung HS Pediatric blood & cancer 2011 PMID: 21162090
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. Ballmaier M Blood 2001 PMID: 11133753
Thrombocytopenia in c-mpl-deficient mice. Gurney AL Science (New York, N.Y.) 1994 PMID: 8073287

Text-mined citations for rs751975712...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021