NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) AND Propionic acidemia

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000236842.1

Allele description [Variation Report for NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)]

NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg)

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.2062T>C (p.Cys688Arg)
HGVS:
  • NC_000013.11:g.100527696T>C
  • NG_008768.1:g.443614T>C
  • NM_000282.4:c.2062T>CMANE SELECT
  • NM_001127692.2:c.1984T>C
  • NM_001178004.1:c.1921T>C
  • NM_001352605.2:c.2008T>C
  • NM_001352606.2:c.1918T>C
  • NM_001352607.2:c.1843T>C
  • NM_001352608.2:c.1840T>C
  • NM_001352610.2:c.1117T>C
  • NM_001352611.2:c.1063T>C
  • NM_001352612.2:c.973T>C
  • NP_000273.2:p.Cys688Arg
  • NP_001121164.1:p.Cys662Arg
  • NP_001171475.1:p.Cys641Arg
  • NP_001339534.1:p.Cys670Arg
  • NP_001339535.1:p.Cys640Arg
  • NP_001339536.1:p.Cys615Arg
  • NP_001339537.1:p.Cys614Arg
  • NP_001339539.1:p.Cys373Arg
  • NP_001339540.1:p.Cys355Arg
  • NP_001339541.1:p.Cys325Arg
  • NC_000013.10:g.101179950T>C
  • NM_000282.3:c.2062T>C
  • NR_148027.2:n.2033T>C
  • NR_148028.2:n.2071T>C
  • NR_148029.2:n.1993T>C
  • NR_148030.2:n.2174T>C
  • NR_148031.2:n.1987T>C
Protein change:
C325R
Links:
dbSNP: rs774949844
NCBI 1000 Genomes Browser:
rs774949844
Molecular consequence:
  • NM_000282.4:c.2062T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127692.2:c.1984T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178004.1:c.1921T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352605.2:c.2008T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352606.2:c.1918T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352607.2:c.1843T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352608.2:c.1840T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352610.2:c.1117T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352611.2:c.1063T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352612.2:c.973T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148027.2:n.2033T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148028.2:n.2071T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148029.2:n.1993T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148030.2:n.2174T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148031.2:n.1987T>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
SCV000256844Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital - ORGANIC ACIDURIAScriteria provided, single submitter
Pathogenic
(Jan 1, 2014)
germlineresearch

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

Description

Missense mutation

SCV000256844

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedresearch

Citations

PubMed

Seventeen Novel Mutations in PCCA and PCCB Genes in Indian Propionic Acidemia Patients, and Their Outcomes.

Gupta D, Bijarnia-Mahay S, Kohli S, Saxena R, Puri RD, Shigematsu Y, Yamaguchi S, Sakamoto O, Gupta N, Kabra M, Thakur S, Deb R, Verma IC.

Genet Test Mol Biomarkers. 2016 Jul;20(7):373-82. doi: 10.1089/gtmb.2016.0017. Epub 2016 May 26.

PubMed [citation]
PMID:
27227689

Details of each submission

From Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital - ORGANIC ACIDURIAS, SCV000256844.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 22, 2021

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