NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) AND Propionic acidemia

Clinical significance:Uncertain significance (Last evaluated: Aug 22, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000778383.1

Allele description [Variation Report for NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)]

NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)

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.230G>A (p.Arg77Gln)
HGVS:
  • NC_000013.11:g.100111887G>A
  • NG_008768.1:g.27805G>A
  • NM_000282.4:c.230G>AMANE SELECT
  • NM_001127692.2:c.152G>A
  • NM_001178004.1:c.230G>A
  • NM_001352605.2:c.230G>A
  • NM_001352606.2:c.230G>A
  • NM_001352607.2:c.152G>A
  • NM_001352608.2:c.152G>A
  • NM_001352609.2:c.230G>A
  • NM_001352610.2:c.-637G>A
  • NM_001352611.2:c.-637G>A
  • NM_001352612.2:c.-637G>A
  • NP_000273.2:p.Arg77Gln
  • NP_001121164.1:p.Arg51Gln
  • NP_001171475.1:p.Arg77Gln
  • NP_001339534.1:p.Arg77Gln
  • NP_001339535.1:p.Arg77Gln
  • NP_001339536.1:p.Arg51Gln
  • NP_001339537.1:p.Arg51Gln
  • NP_001339538.1:p.Arg77Gln
  • NC_000013.10:g.100764141G>A
  • NM_000282.3:c.230G>A
  • NR_148027.2:n.258G>A
  • NR_148028.2:n.258G>A
  • NR_148029.2:n.180G>A
  • NR_148030.2:n.258G>A
  • NR_148031.2:n.258G>A
Protein change:
R51Q
Links:
dbSNP: rs1387778734
NCBI 1000 Genomes Browser:
rs1387778734
Molecular consequence:
  • NM_001352610.2:c.-637G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352611.2:c.-637G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352612.2:c.-637G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000282.4:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127692.2:c.152G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178004.1:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352605.2:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352606.2:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352607.2:c.152G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352608.2:c.152G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352609.2:c.230G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148027.2:n.258G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148028.2:n.258G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148029.2:n.180G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148030.2:n.258G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148031.2:n.258G>A - 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
SCV000914605Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Aug 22, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Clinical characteristics and mutation analysis of propionic acidemia in Thailand.

Vatanavicharn N, Liammongkolkul S, Sakamoto O, Kamolsilp M, Sathienkijkanchai A, Wasant P.

World J Pediatr. 2014 Feb;10(1):64-8. doi: 10.1007/s12519-014-0454-4. Epub 2014 Jan 25.

PubMed [citation]
PMID:
24464666

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000914605.1

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

Description

The PCCA c.230G>A (p.Arg77Gln) missense variant was identified in a compound heterozygous state with a stop-gained variant in a female who was diagnosed with propionic acidemia via urine organic acid analysis after she presented with clinical symptoms (Vatanavicharn et al. 2014). She displayed mild developmental delay in addition to increased excretions of propionylglycine, 3-hydroxypropionate, and methylcitrate and died from cardiac arrest at six years of age, presumably related to suspected cardiomyopathy. The p.Arg77Gln variant was inherited from her presumably unaffected father. Control data are unavailable for this variant, which is reported at a frequency of 0.000033 in the South Asian population of the Genome Aggregation Database. This frequency is based on one allele only; however, this genomic region had adequate coverage, so the variant is presumed to be rare. The variant is also located in an important functional domain of the protein, the biotin carboxylase domain. The evidence for this variant is limited, but based on the evidence available, the p.Arg77Gln variant is classified as a variant of unknown significance but suspicious for pathogenicity for propionic acidemia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Oct 7, 2021

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