NM_004563.3(PCK2):c.577C>T (p.Arg193Ter) AND Phosphoenolpyruvate carboxykinase deficiency, mitochondrial

Clinical significance:Pathogenic (Last evaluated: Dec 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000625920.1

Allele description [Variation Report for NM_004563.3(PCK2):c.577C>T (p.Arg193Ter)]

NM_004563.3(PCK2):c.577C>T (p.Arg193Ter)

Genes:
NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
PCK2:phosphoenolpyruvate carboxykinase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q11.2
Genomic location:
Preferred name:
NM_004563.3(PCK2):c.577C>T (p.Arg193Ter)
HGVS:
  • NC_000014.9:g.24098591C>T
  • NG_008162.2:g.9318C>T
  • NM_001018073.2:c.577C>T
  • NM_004563.3:c.577C>T
  • NP_001018083.2:p.Arg193Ter
  • NP_004554.3:p.Arg193Ter
  • NC_000014.8:g.24567800C>T
  • NM_004563.2:c.577C>T
Protein change:
R193*
Links:
dbSNP: rs753706965
NCBI 1000 Genomes Browser:
rs753706965
Molecular consequence:
  • NM_004563.3:c.577C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial (PCKDM)
Synonyms:
PCK2 DEFICIENCY; PEPCK2 DEFICIENCY
Identifiers:
MedGen: C1849821; Orphanet: 2880; OMIM: 261650

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000746506Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Pathogenic
(Dec 3, 2017)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknownnot 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 Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000746506.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 19, 2019

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