NM_000282.4(PCCA):c.2T>A (p.Met1Lys) AND Propionic acidemia

Clinical significance:Pathogenic (Last evaluated: May 8, 2019)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000790481.2

Allele description [Variation Report for NM_000282.4(PCCA):c.2T>A (p.Met1Lys)]

NM_000282.4(PCCA):c.2T>A (p.Met1Lys)

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.2T>A (p.Met1Lys)
HGVS:
  • NC_000013.11:g.100089122T>A
  • NG_008768.1:g.5040T>A
  • NM_000282.4:c.2T>AMANE SELECT
  • NM_001127692.2:c.2T>A
  • NM_001178004.1:c.2T>A
  • NM_001352605.2:c.2T>A
  • NM_001352606.2:c.2T>A
  • NM_001352607.2:c.2T>A
  • NM_001352608.2:c.2T>A
  • NM_001352609.2:c.2T>A
  • NM_001352610.2:c.-865T>A
  • NM_001352611.2:c.-865T>A
  • NM_001352612.2:c.-865T>A
  • NP_000273.2:p.Met1Lys
  • NP_001121164.1:p.Met1Lys
  • NP_001171475.1:p.Met1Lys
  • NP_001339534.1:p.Met1Lys
  • NP_001339535.1:p.Met1Lys
  • NP_001339536.1:p.Met1Lys
  • NP_001339537.1:p.Met1Lys
  • NP_001339538.1:p.Met1Lys
  • NC_000013.10:g.100741376T>A
  • NM_000282.3:c.2T>A
  • NR_148027.2:n.30T>A
  • NR_148028.2:n.30T>A
  • NR_148029.2:n.30T>A
  • NR_148030.2:n.30T>A
  • NR_148031.2:n.30T>A
Protein change:
M1K
Links:
dbSNP: rs372093520
NCBI 1000 Genomes Browser:
rs372093520
Molecular consequence:
  • NM_001352610.2:c.-865T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352611.2:c.-865T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001352612.2:c.-865T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000282.4:c.2T>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001127692.2:c.2T>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001178004.1:c.2T>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001352605.2:c.2T>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001352606.2:c.2T>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001352607.2:c.2T>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001352608.2:c.2T>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001352609.2:c.2T>A - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_000282.4:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127692.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178004.1:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352605.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352606.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352607.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352608.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352609.2:c.2T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148027.2:n.30T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148028.2:n.30T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148029.2:n.30T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148030.2:n.30T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148031.2:n.30T>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
SCV000929807Laboratory of Metabolic Disorders, Peking University First Hospitalno assertion criteria providedPathogenic
(May 8, 2019)
inheritedclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chineseinheritedyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory of Metabolic Disorders, Peking University First Hospital, SCV000929807.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinesenot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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