Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

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

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Nov 19, 2021)
Last evaluated:
Oct 25, 2021
Accession:
VCV000371574.6
Variation ID:
371574
Description:
single nucleotide variant
Help

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

Allele ID
357085
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.2
Genomic location
1: 43338146 (GRCh38) GRCh38 UCSC
1: 43803817 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.43803817C>T
NM_005373.2:c.127C>T NP_005364.1:p.Arg43Ter nonsense
NC_000001.11:g.43338146C>T
... more HGVS
Protein change
R43*
Other names
-
Canonical SPDI
NC_000001.11:43338145:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00003
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00005
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA806582
dbSNP: rs148434485
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Oct 25, 2021 RCV000411190.2
MPL-Related Disorders
Pathogenic 1 criteria provided, single submitter Oct 4, 2018 RCV000778238.1
Pathogenic 1 criteria provided, single submitter Jul 19, 2020 RCV001248333.2
Pathogenic 1 no assertion criteria provided Sep 2, 2021 RCV001782878.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 31, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital amegakaryocytic thrombocytopenia
Allele origin: unknown
Counsyl
Accession: SCV000487190.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 04, 2018)
criteria provided, single submitter
Method: clinical testing
MPL-Related Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000914406.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The MPL c.127C>T (p.Arg43Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The variant has been reported in three … (more)
Pathogenic
(Jul 19, 2020)
criteria provided, single submitter
Method: clinical testing
essential thrombocytemia
Congenital amegakaryocytic thrombocytopenia
Allele origin: germline
Invitae
Accession: SCV001421808.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
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 … (more)
Pathogenic
(Oct 25, 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: SCV002015069.1
Submitted: (Nov 16, 2021)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: MPL c.127C>T (p.Arg43X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Sep 02, 2021)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002017531.1
Submitted: (Nov 19, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. Savoia A Haematologica 2007 PMID: 17666371
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. Germeshausen M Human mutation 2006 PMID: 16470591
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 rs148434485...

Help
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 28, 2021