NM_003477.3(PDHX):c.742C>T (p.Gln248Ter) AND Pyruvate dehydrogenase E3-binding protein deficiency

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2007)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002199.4

Allele description [Variation Report for NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)]

NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)

Gene:
PDHX:pyruvate dehydrogenase complex component X [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)
HGVS:
  • NC_000011.10:g.34966740C>T
  • NG_013368.1:g.55611C>T
  • NM_001135024.2:c.562C>T
  • NM_001166158.2:c.343-17830C>T
  • NM_003477.3:c.742C>TMANE SELECT
  • NP_001128496.2:p.Gln188Ter
  • NP_003468.2:p.Gln248Ter
  • NC_000011.9:g.34988287C>T
Protein change:
Q188*; GLN248TER
Links:
OMIM: 608769.0008; dbSNP: rs113309941
NCBI 1000 Genomes Browser:
rs113309941
Molecular consequence:
  • NM_001166158.2:c.343-17830C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001135024.2:c.562C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003477.3:c.742C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD)
Synonyms:
LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE HYDROGENASE E3-BINDING PROTEIN DEFICIENCY; E3-Binding Protein (Component X) Deficiency
Identifiers:
MONDO: MONDO:0009503; MedGen: C1855553; OMIM: 245349

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022357OMIMno assertion criteria providedPathogenic
(Feb 1, 2007)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

Miné M, Chen JM, Brivet M, Desguerre I, Marchant D, de Lonlay P, Bernard A, Férec C, Abitbol M, Ricquier D, Marsac C.

Hum Mutat. 2007 Feb;28(2):137-42.

PubMed [citation]
PMID:
17152059

Details of each submission

From OMIM, SCV000022357.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the gln248-to-ter (Q248X) mutation in the PDHX gene that was found in compound heterozygous state in a patient with pyruvate dehydrogenase E3-binding protein deficiency (PDHXD; 245349) by Mine et al. (2007), see 608769.0007.

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

Last Updated: Oct 24, 2021

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