U.S. flag

An official website of the United States government

  • delete

NM_005373.3(MPL):c.79+2T>A AND MPL-related condition

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2024
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:
RCV003407528.5

Allele description

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:
MPL-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004115979PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 20, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004115979.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The MPL c.79+2T>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has been reported in patients with autosomal recessive congenital amegakaryocytic thrombocytopenia (Germeshausen et al. 2006. PubMed ID: 16470591; Jalas et al. 2011. PubMed ID: 21489838). The c.79+2T>A variant has also been characterized as a founder variant in the Ashkenazi Jewish population, being reported in 0.82% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (Jalas et al. 2011. PubMed ID: 21489838). However, it does not occur frequently in other gnomAD populations. Variants that disrupt the consensus splice donor site in MPL are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: May 7, 2024