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NM_005373.3(MPL):c.1231C>T (p.Gln411Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 2, 2023
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:
RCV003796998.2

Allele description [Variation Report for NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)]

NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)

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.1231C>T (p.Gln411Ter)
HGVS:
  • NC_000001.11:g.43346857C>T
  • NG_007525.1:g.14054C>T
  • NM_005373.3:c.1231C>TMANE SELECT
  • NP_005364.1:p.Gln411Ter
  • NP_005364.1:p.Gln411Ter
  • LRG_510t1:c.1231C>T
  • LRG_510:g.14054C>T
  • LRG_510p1:p.Gln411Ter
  • NC_000001.10:g.43812528C>T
  • NM_005373.2:c.1231C>T
Protein change:
Q411*
Molecular consequence:
  • NM_005373.3:c.1231C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Congenital amegakaryocytic thrombocytopenia
Identifiers:
MONDO: MONDO:0800451; MedGen: C1327915; Orphanet: 3319; OMIM: PS604498
Name:
Essential thrombocythemia
Synonyms:
essential thrombocytemia; Suspected essential thromboythemia
Identifiers:
MONDO: MONDO:0005029; MeSH: D013920; MedGen: C0040028

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004585954Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jan 2, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Thrombocytopenia in c-mpl-deficient mice.

Gurney AL, Carver-Moore K, de Sauvage FJ, Moore MW.

Science. 1994 Sep 2;265(5177):1445-7.

PubMed [citation]
PMID:
8073287

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.

Ballmaier M, Germeshausen M, Schulze H, Cherkaoui K, Lang S, Gaudig A, Krukemeier S, Eilers M, Strauss G, Welte K.

Blood. 2001 Jan 1;97(1):139-46.

PubMed [citation]
PMID:
11133753
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004585954.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This variant has not been reported in the literature in individuals affected with MPL-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln411*) in the MPL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPL are known to be pathogenic (PMID: 8073287, 11133753).

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

Last Updated: Sep 29, 2024