NM_000282.4(PCCA):c.1284+2dup AND Propionic acidemia

Clinical significance:Pathogenic (Last evaluated: Feb 17, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001293407.1

Allele description [Variation Report for NM_000282.4(PCCA):c.1284+2dup]

NM_000282.4(PCCA):c.1284+2dup

Gene:
PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
13q32.3
Genomic location:
Preferred name:
NM_000282.4(PCCA):c.1284+2dup
HGVS:
  • NC_000013.11:g.100303000dup
  • NG_008768.1:g.218918dup
  • NM_000282.4:c.1284+2dupMANE SELECT
  • NM_001127692.3:c.1206+2dup
  • NM_001178004.2:c.1284+2dup
  • NM_001352605.2:c.1284+2dup
  • NM_001352606.2:c.1140+2dup
  • NM_001352607.2:c.1206+2dup
  • NM_001352608.2:c.1062+2dup
  • NM_001352609.2:c.1284+2dup
  • NM_001352610.2:c.339+2dup
  • NM_001352611.2:c.339+2dup
  • NM_001352612.2:c.195+2dup
  • NC_000013.10:g.100955254dup
Molecular consequence:
  • NM_000282.4:c.1284+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127692.3:c.1206+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001178004.2:c.1284+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352605.2:c.1284+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352606.2:c.1140+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352607.2:c.1206+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352608.2:c.1062+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352609.2:c.1284+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352610.2:c.339+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352611.2:c.339+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001352612.2:c.195+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001482004Laboratory of Inherited Metabolic Diseases, Research centre for medical geneticscriteria provided, single submitter
Pathogenic
(Feb 17, 2021)
germline, not applicableresearch, in vitro

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot applicablenot applicablenot providednot providednot providednot providednot providedin vitro
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

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

Details of each submission

From Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV001482004.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
2not providednot providednot providednot providedin vitro PubMed (1)

Description

PS3, PM2, PM3, PP3, PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided
2not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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