NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter) AND Propionic acidemia

Clinical significance:Pathogenic (Last evaluated: Jan 25, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001055670.2

Allele description [Variation Report for NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)]

NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)

Gene:
PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q32.3
Genomic location:
Preferred name:
NM_000282.4(PCCA):c.1288C>T (p.Arg430Ter)
HGVS:
  • NC_000013.11:g.100307195C>T
  • NG_008768.1:g.223113C>T
  • NM_000282.4:c.1288C>TMANE SELECT
  • NM_001127692.2:c.1210C>T
  • NM_001178004.1:c.1288C>T
  • NM_001352605.2:c.1288C>T
  • NM_001352606.2:c.1144C>T
  • NM_001352607.2:c.1210C>T
  • NM_001352608.2:c.1066C>T
  • NM_001352609.2:c.1288C>T
  • NM_001352610.2:c.343C>T
  • NM_001352611.2:c.343C>T
  • NM_001352612.2:c.199C>T
  • NP_000273.2:p.Arg430Ter
  • NP_001121164.1:p.Arg404Ter
  • NP_001171475.1:p.Arg430Ter
  • NP_001339534.1:p.Arg430Ter
  • NP_001339535.1:p.Arg382Ter
  • NP_001339536.1:p.Arg404Ter
  • NP_001339537.1:p.Arg356Ter
  • NP_001339538.1:p.Arg430Ter
  • NP_001339539.1:p.Arg115Ter
  • NP_001339540.1:p.Arg115Ter
  • NP_001339541.1:p.Arg67Ter
  • NC_000013.10:g.100959449C>T
  • NM_000282.3:c.1288C>T
  • NR_148027.2:n.1400C>T
  • NR_148028.2:n.1400C>T
  • NR_148029.2:n.1322C>T
  • NR_148030.2:n.1400C>T
  • NR_148031.2:n.1316C>T
Protein change:
R115*
Molecular consequence:
  • NR_148027.2:n.1400C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148028.2:n.1400C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148029.2:n.1322C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148030.2:n.1400C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148031.2:n.1316C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000282.4:c.1288C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127692.2:c.1210C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001178004.1:c.1288C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352605.2:c.1288C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352606.2:c.1144C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352607.2:c.1210C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352608.2:c.1066C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352609.2:c.1288C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352610.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352611.2:c.343C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001352612.2:c.199C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Propionic acidemia (PROP)
Synonyms:
Propionyl-CoA carboxylase deficiency; PCC deficiency; Glycinemia, ketotic; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011628; MedGen: C0268579; Orphanet: 35; OMIM: 606054; Human Phenotype Ontology: HP:0003353

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001220070Invitaecriteria provided, single submitter
Pathogenic
(Jan 25, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias.

Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, Barbier V, Habarou F, Desguerre I, Boddaert N, Bonnefont JP, Acquaviva C, Benoist JF, Rabier D, Touati G, de Lonlay P.

Orphanet J Rare Dis. 2013 Sep 23;8:148. doi: 10.1186/1750-1172-8-148.

PubMed [citation]
PMID:
24059531
PMCID:
PMC4016503

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

Desviat LR, Pérez B, Pérez-Cerdá C, Rodríguez-Pombo P, Clavero S, Ugarte M.

Mol Genet Metab. 2004 Sep-Oct;83(1-2):28-37. Review.

PubMed [citation]
PMID:
15464417
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001220070.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Arg430*) in the PCCA gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776821944, ExAC 0.01%). This variant has been observed in an individual affected with clinical features of propionic acidemia (PMID: 24059531). Loss-of-function variants in PCCA are known to be pathogenic (PMID: 15464417). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 7, 2021

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