NM_000920.3(PC):c.2668G>T (p.Val890Phe) AND Pyruvate carboxylase deficiency

Clinical significance:Pathogenic (Last evaluated: Apr 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000576201.1

Allele description [Variation Report for NM_000920.3(PC):c.2668G>T (p.Val890Phe)]

NM_000920.3(PC):c.2668G>T (p.Val890Phe)

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_000920.3(PC):c.2668G>T (p.Val890Phe)
Other names:
PC
HGVS:
  • NC_000011.10:g.66850270C>A
  • NG_008319.1:g.113107G>T
  • NM_000920.3:c.2668G>T
  • NM_001040716.1:c.2668G>T
  • NP_000911.2:p.Val890Phe
  • NP_001035806.1:p.Val890Phe
  • NC_000011.9:g.66617741C>A
Protein change:
V890F
Links:
dbSNP: rs1555014957
NCBI 1000 Genomes Browser:
rs1555014957
Molecular consequence:
  • NM_001040716.1:c.2668G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Pyruvate carboxylase deficiency
Synonyms:
ATAXIA WITH LACTIC ACIDOSIS II; Pyruvate Carboxylase Deficiency Disease
Identifiers:
MedGen: C0034341; Orphanet: 3008; OMIM: 266150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000612166Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciencescriteria provided, single submitter
Pathogenic
(Apr 25, 2016)
inheritedclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indianinheritedyes1not 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

Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis.

Mangla P, Gambhir PS, Sudhanshu S, Srivastava P, Rai A, Bhatia V, Phadke SR.

Indian J Pediatr. 2017 Dec;84(12):959-960. doi: 10.1007/s12098-017-2430-1. Epub 2017 Aug 23. No abstract available.

PubMed [citation]
PMID:
28831725

Details of each submission

From Department of Medical Genetics,Sanjay Gandhi Post Graduate Institute of Medical Sciences, SCV000612166.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedclinical testing PubMed (2)

Description

Clinical exome sequencing revealed a novel homozygous missense variant c.2668 G > T (V890F) in the PC gene. It is predicted to be pathogenic by bioinformatics prediction tools. The variant was confirmed by Sanger sequencing; the parents were heterozygous carriers.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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