NM_005373.3(MPL):c.79+2T>A AND Primary myelofibrosis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 23, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001330057.3

Allele description [Variation Report for NM_005373.3(MPL):c.79+2T>A]

NM_005373.3(MPL):c.79+2T>A

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.79+2T>A

HGVS:

NC_000001.11:g.43337929T>A
NG_007525.1:g.5126T>A
NM_005373.3:c.79+2T>AMANE SELECT
LRG_510t1:c.79+2T>A
LRG_510:g.5126T>A
NC_000001.10:g.43803600T>A
NM_005373.2:c.79+2T>A
c.79+2T>A (p.?)

Links:

dbSNP: rs146249964

NCBI 1000 Genomes Browser:

rs146249964

Molecular consequence:

NM_005373.3:c.79+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Primary myelofibrosis
Synonyms:: Myelofibrosis, somatic; Suspected idiopathic myelofibrosis
Identifiers:: MONDO: MONDO:0009692; MeSH: D055728; MedGen: C0001815; Orphanet: 824; OMIM: 254450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001521650	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 23, 2019)	paternal	clinical testing	PubMed (3) [See all records that cite these PMIDs] 16470591, 21489838, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001521650

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 23, 2019)

paternal

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.

Jalas C, Anderson SL, Laufer T, Martimucci K, Bulanov A, Xie X, Ekstein J, Rubin BY.

Blood Cells Mol Dis. 2011 Jun 15;47(1):79-83. doi: 10.1016/j.bcmd.2011.03.006. Epub 2011 Apr 13.

PubMed [citation]

PMID:: 21489838

See all PubMed Citations (3)

Details of each submission

From Baylor Genetics, SCV001521650.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. This c.79+2T>A variant has been previously reported as disease-causing in patients with CAMT (congenital amegakaryocytic thrombocytopenia) [PMID 16470591, 21489838]

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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