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.378del (p.Phe126fs)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Nov 19, 2021)
Last evaluated:
Oct 22, 2020
Accession:
VCV000265249.9
Variation ID:
265249
Description:
1bp deletion
Help

NM_005373.3(MPL):c.378del (p.Phe126fs)

Allele ID
259671
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p34.2
Genomic location
1: 43338705 (GRCh38) GRCh38 UCSC
1: 43804376 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.43804378del
NC_000001.11:g.43338707del
NG_007525.1:g.5904del
... more HGVS
Protein change
F126fs
Other names
-
Canonical SPDI
NC_000001.11:43338704:TTT:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA160817
dbSNP: rs587778515
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jun 22, 2018 RCV000780430.3
Pathogenic 2 criteria provided, single submitter Aug 29, 2016 RCV000255711.2
Pathogenic 1 criteria provided, single submitter Oct 22, 2020 RCV001047546.2
not provided 1 no assertion provided Sep 19, 2013 RCV000121537.1
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
(Aug 29, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000321907.7
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.378delT pathogenic variant in the MPL gene has been reported previously in association with congenital amegakaryocytic thrombocytopenia (CAMT) (Ballmaier et al., 2001). The deletion … (more)
Pathogenic
(Jun 22, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital amegakaryocytic thrombocytopenia
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000917676.1
Submitted: (Apr 24, 2019)
Evidence details
Publications
PubMed (2)
Comment:
Variant summary: MPL c.378delT (p.Phe126LeufsX5) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Congenital amegakaryocytic thrombocytopenia
Allele origin: germline
Baylor Genetics
Accession: SCV001162890.1
Submitted: (Sep 27, 2019)
Evidence details
Pathogenic
(Oct 22, 2020)
criteria provided, single submitter
Method: clinical testing
essential thrombocytemia
Congenital amegakaryocytic thrombocytopenia
Allele origin: germline
Invitae
Accession: SCV001211511.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change creates a premature translational stop signal (p.Phe126Leufs*5) in the MPL gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Congenital amegakaryocytic thrombocytopenia
Allele origin: germline
Natera, Inc.
Accession: SCV001453974.1
Submitted: (Dec 28, 2020)
Evidence details
Pathogenic
(Jan 24, 2020)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
PerkinElmer Genomics
Accession: SCV002017528.1
Submitted: (Nov 19, 2021)
Evidence details
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000085731.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

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
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. Lo C Journal of pediatric hematology/oncology 2018 PMID: 28859041
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327
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 rs587778515...

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 Dec 04, 2021