NM_000920.3(PC):c.1351C>T (p.Arg451Cys) AND Pyruvate carboxylase deficiency

Clinical significance:Pathogenic (Last evaluated: Jul 21, 2011)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000002178.3

Allele description [Variation Report for NM_000920.3(PC):c.1351C>T (p.Arg451Cys)]

NM_000920.3(PC):c.1351C>T (p.Arg451Cys)

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.1351C>T (p.Arg451Cys)
HGVS:
  • NC_000011.10:g.66863791G>A
  • NG_008319.1:g.99586C>T
  • NM_000920.3:c.1351C>T
  • NM_001040716.1:c.1351C>T
  • NP_000911.2:p.Arg451Cys
  • NP_001035806.1:p.Arg451Cys
  • NC_000011.9:g.66631262G>A
  • P11498:p.Arg451Cys
Protein change:
R451C; ARG451CYS
Links:
UniProtKB: P11498#VAR_015200; OMIM: 608786.0004; dbSNP: rs113994143
NCBI 1000 Genomes Browser:
rs113994143
Molecular consequence:
  • NM_001040716.1:c.1351C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000022336OMIMno assertion criteria providedPathogenic
(May 1, 1998)
germlineliterature only

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

SCV000040772GeneReviewsno assertion criteria providedpathologic
(Jul 21, 2011)
not providedcuration

Summary from all submissions

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

Citations

PubMed

Molecular characterization of pyruvate carboxylase deficiency in two consanguineous families.

Wexler ID, Kerr DS, Du Y, Kaung MM, Stephenson W, Lusk MM, Wappner RS, Higgins JJ.

Pediatr Res. 1998 May;43(5):579-84.

PubMed [citation]
PMID:
9585002

Details of each submission

From OMIM, SCV000022336.2

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

Description

In an affected brother and sister from a consanguineous family with pyruvate carboxylase deficiency (266150), Wexler et al. (1998) identified a homozygous 1351C-T transition the PC gene, resulting in an arg451-to-cys (R451C) substitution. Both parents were heterozygous for the mutation. Both mutations occurred in relatively conserved amino acid residues and were located in the biotin carboxylase domain.

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

From GeneReviews, SCV000040772.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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