NM_000920.3(PC):c.1828G>A (p.Ala610Thr) 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:
RCV000002175.2

Allele description [Variation Report for NM_000920.3(PC):c.1828G>A (p.Ala610Thr)]

NM_000920.3(PC):c.1828G>A (p.Ala610Thr)

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.1828G>A (p.Ala610Thr)
HGVS:
  • NC_000011.10:g.66851944C>T
  • NG_008319.1:g.111433G>A
  • NM_000920.3:c.1828G>A
  • NM_001040716.1:c.1828G>A
  • NP_000911.2:p.Ala610Thr
  • NP_001035806.1:p.Ala610Thr
  • NC_000011.9:g.66619415C>T
  • P11498:p.Ala610Thr
Protein change:
A610T; ALA610THR
Links:
UniProtKB: P11498#VAR_008095; OMIM: 608786.0001; dbSNP: rs28940589
NCBI 1000 Genomes Browser:
rs28940589
Molecular consequence:
  • NM_001040716.1:c.1828G>A - 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
SCV000022333OMIMno assertion criteria providedPathogenic
(Jun 1, 1998)
germlineliterature only

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

SCV000040774GeneReviewsno assertion criteria providedpathologic
(Jul 21, 2011)
not providedcuration

Summary from all submissions

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

Citations

PubMed

Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations.

Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH.

Am J Hum Genet. 1998 Jun;62(6):1312-9.

PubMed [citation]
PMID:
9585612
PMCID:
PMC1377163

Details of each submission

From OMIM, SCV000022333.1

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

Description

In 11 Ojibwa and 2 Cree Amerindian patients with simple pyruvate carboxylase deficiency (266150), Carbone et al. (1998) identified a homozygous 1828G-A transition in the PC gene, resulting in an ala610-to-thr (A610T) substitution.

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

From GeneReviews, SCV000040774.2

#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: May 2, 2019

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