NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup) AND Deficiency of acetyl-CoA acetyltransferase

Clinical significance:Uncertain significance (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:
RCV000844822.1

Allele description [Variation Report for NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)]

NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)

Gene:
ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000019.4(ACAT1):c.947_949dup (p.Ala316dup)
HGVS:
  • NC_000011.10:g.108143989_108143991dup
  • NG_009888.1:g.27459_27461dup
  • NG_009888.2:g.32285_32287dup
  • NM_000019.4:c.947_949dupMANE SELECT
  • NP_000010.1:p.Ala316dup
  • LRG_1400t1:c.947_949dup
  • LRG_1400:g.32285_32287dup
  • LRG_1400p1:p.Ala316dup
  • NC_000011.9:g.108014716_108014718dup
  • NM_000019.3:c.947_949dup
Links:
dbSNP: rs1591372596
NCBI 1000 Genomes Browser:
rs1591372596
Molecular consequence:
  • NM_000019.4:c.947_949dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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
SCV000966099Department of Pediatrics, Gifu Universitycriteria provided, single submitter
Uncertain significance
(May 5, 2019)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not providednot providedyesliterature only

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

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Abdelkreem E, Harijan RK, Yamaguchi S, Wierenga RK, Fukao T.

Hum Mutat. 2019 Oct;40(10):1641-1663. doi: 10.1002/humu.23831. Epub 2019 Jul 3. Review.

PubMed [citation]
PMID:
31268215
PMCID:
PMC6790690

Details of each submission

From Department of Pediatrics, Gifu University, SCV000966099.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providedyesliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not provided1not provided

Last Updated: Jun 27, 2020

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