NM_004563.3(PCK2):c.1468+2T>C AND Phosphoenolpyruvate carboxykinase deficiency, mitochondrial

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000509359.1

Allele description [Variation Report for NM_004563.3(PCK2):c.1468+2T>C]

NM_004563.3(PCK2):c.1468+2T>C

Genes:
NRL:neural retina leucine zipper [Gene - OMIM - HGNC]
PCK2:phosphoenolpyruvate carboxykinase 2, mitochondrial [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q12
Genomic location:
Preferred name:
NM_004563.3(PCK2):c.1468+2T>C
HGVS:
  • NC_000014.9:g.24103257T>C
  • NG_008162.2:g.13984T>C
  • NM_004563.3:c.1468+2T>C
  • NC_000014.8:g.24572466T>C
Links:
dbSNP: rs148019349
NCBI 1000 Genomes Browser:
rs148019349
Molecular consequence:
  • NM_004563.3:c.1468+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000607049GenomeConnect, ClinGenno assertion providednot providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000607049.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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