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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001521650Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 23, 2019) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical 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]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024