NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val) AND Deficiency of acetyl-CoA acetyltransferase

Clinical significance:Likely pathogenic (Last evaluated: May 5, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000844836.1

Allele description [Variation Report for NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)]

NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)

Gene:
ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000019.4(ACAT1):c.1061A>T (p.Glu354Val)
HGVS:
  • NC_000011.10:g.108146257A>T
  • NG_009888.1:g.29727A>T
  • NG_009888.2:g.34553A>T
  • NM_000019.4:c.1061A>TMANE SELECT
  • NP_000010.1:p.Glu354Val
  • LRG_1400t1:c.1061A>T
  • LRG_1400:g.34553A>T
  • LRG_1400p1:p.Glu354Val
  • NC_000011.9:g.108016984A>T
  • NM_000019.3:c.1061A>T
Protein change:
E354V
Links:
dbSNP: rs1591374632
NCBI 1000 Genomes Browser:
rs1591374632
Molecular consequence:
  • NM_000019.4:c.1061A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deficiency of acetyl-CoA acetyltransferase
Synonyms:
Alpha-methylacetoaceticaciduria; 2-methyl-3-hydroxybutyricacidemia; Mitochondrial acetoacetyl-CoA Thiolase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008760; MedGen: C1536500; Orphanet: 134; OMIM: 203750

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000966115Department of Pediatrics, Gifu Universitycriteria provided, single submitter
Likely pathogenic
(May 5, 2019)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providedyesresearch

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

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.

Fukao T, Nakamura H, Nakamura K, Perez-Cerda C, Baldellou A, Barrionuevo CR, Castello FG, Kohno Y, Ugarte M, Kondo N.

Mol Genet Metab. 2002 Mar;75(3):235-43.

PubMed [citation]
PMID:
11914035
See all PubMed Citations (3)

Details of each submission

From Department of Pediatrics, Gifu University, SCV000966115.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesresearch PubMed (3)
2not providednot providednot providednot providedresearch PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided
2germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2020

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