NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) AND Propionic acidemia

Clinical significance:Uncertain significance (Last evaluated: Jun 4, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000674930.1

Allele description [Variation Report for NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)]

NM_000282.4(PCCA):c.223G>C (p.Ala75Pro)

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.223G>C (p.Ala75Pro)
HGVS:
  • NC_000013.11:g.100111880G>C
  • NG_008768.1:g.27798G>C
  • NM_000282.4:c.223G>CMANE SELECT
  • NM_001127692.2:c.145G>C
  • NM_001178004.1:c.223G>C
  • NM_001352605.2:c.223G>C
  • NM_001352606.2:c.223G>C
  • NM_001352607.2:c.145G>C
  • NM_001352608.2:c.145G>C
  • NM_001352609.2:c.223G>C
  • NM_001352610.2:c.-644G>C
  • NM_001352611.2:c.-644G>C
  • NM_001352612.2:c.-644G>C
  • NP_000273.2:p.Ala75Pro
  • NP_001121164.1:p.Ala49Pro
  • NP_001171475.1:p.Ala75Pro
  • NP_001339534.1:p.Ala75Pro
  • NP_001339535.1:p.Ala75Pro
  • NP_001339536.1:p.Ala49Pro
  • NP_001339537.1:p.Ala49Pro
  • NP_001339538.1:p.Ala75Pro
  • NC_000013.10:g.100764134G>C
  • NM_000282.3:c.223G>C
  • NR_148027.2:n.251G>C
  • NR_148028.2:n.251G>C
  • NR_148029.2:n.173G>C
  • NR_148030.2:n.251G>C
  • NR_148031.2:n.251G>C
  • P05165:p.Ala75Pro
Protein change:
A49P
Links:
UniProtKB: P05165#VAR_009087; dbSNP: rs794727479
NCBI 1000 Genomes Browser:
rs794727479
Molecular consequence:
  • NM_001352610.2:c.-644G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352611.2:c.-644G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352612.2:c.-644G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000282.4:c.223G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127692.2:c.145G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178004.1:c.223G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352605.2:c.223G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352606.2:c.223G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352607.2:c.145G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352608.2:c.145G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352609.2:c.223G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148027.2:n.251G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148028.2:n.251G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148029.2:n.173G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148030.2:n.251G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148031.2:n.251G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000800346Counsylcriteria provided, single submitter
Uncertain significance
(Jun 4, 2018)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Functional characterization of PCCA mutations causing propionic acidemia.

Clavero S, Martínez MA, Pérez B, Pérez-Cerdá C, Ugarte M, Desviat LR.

Biochim Biophys Acta. 2002 Nov 20;1588(2):119-25.

PubMed [citation]
PMID:
12385775

Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.

Campeau E, Dupuis L, León-Del-Rio A, Gravel R.

Mol Genet Metab. 1999 May;67(1):11-22.

PubMed [citation]
PMID:
10329019
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000800346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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