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NM_002591.4(PCK1):c.574T>C (p.Cys192Arg) AND Phosphoenolpyruvate carboxykinase deficiency, cytosolic

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003228696.1

Allele description [Variation Report for NM_002591.4(PCK1):c.574T>C (p.Cys192Arg)]

NM_002591.4(PCK1):c.574T>C (p.Cys192Arg)

Gene:
PCK1:phosphoenolpyruvate carboxykinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.31
Genomic location:
Preferred name:
NM_002591.4(PCK1):c.574T>C (p.Cys192Arg)
HGVS:
  • NC_000020.11:g.57562863T>C
  • NG_008205.1:g.6783T>C
  • NM_002591.4:c.574T>CMANE SELECT
  • NP_002582.3:p.Cys192Arg
  • NC_000020.10:g.56137919T>C
Protein change:
C192R
Molecular consequence:
  • NM_002591.4:c.574T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCKDC)
Synonyms:
PCK1 DEFICIENCY, CYTOSOLIC; PEPCK DEFICIENCY, CYTOSOLIC
Identifiers:
MONDO: MONDO:0009866; MedGen: C5574905; Orphanet: 2880; OMIM: 261680

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003924392Fatma Al Jasmi Lab, United Arab Emirates University
no assertion criteria provided
Pathogenicinheritedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Middle easterninheritedyes1not providednot providednot providednot providedclinical testing
middle easterninheritedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Fatma Al Jasmi Lab, United Arab Emirates University, SCV003924392.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Middle eastern1not providednot providedclinical testingnot provided
2middle eastern1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided
2inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 27, 2023