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NM_000019.4(ACAT1):c.334+1G>A AND Deficiency of acetyl-CoA acetyltransferase

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 5, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000844779.1

Allele description [Variation Report for NM_000019.4(ACAT1):c.334+1G>A]

NM_000019.4(ACAT1):c.334+1G>A

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.334+1G>A
HGVS:
  • NC_000011.10:g.108134317G>A
  • NG_009888.2:g.22613G>A
  • NM_000019.4:c.334+1G>AMANE SELECT
  • NM_001386677.1:c.334+1G>A
  • NM_001386678.1:c.120+2363G>A
  • NM_001386679.1:c.37+21G>A
  • NM_001386681.1:c.64+1G>A
  • NM_001386682.1:c.64+1G>A
  • NM_001386685.1:c.64+1G>A
  • NM_001386686.1:c.64+1G>A
  • NM_001386687.1:c.64+1G>A
  • NM_001386688.1:c.64+1G>A
  • NM_001386689.1:c.64+1G>A
  • NM_001386690.1:c.64+1G>A
  • NM_001386691.1:c.64+1G>A
  • LRG_1400t1:c.334+1G>A
  • LRG_1400:g.22613G>A
  • NC_000011.9:g.108005044G>A
  • NM_000019.3:c.334+1G>A
Links:
dbSNP: rs1591362533
NCBI 1000 Genomes Browser:
rs1591362533
Molecular consequence:
  • NM_001386678.1:c.120+2363G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001386679.1:c.37+21G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000019.4:c.334+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386677.1:c.334+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386681.1:c.64+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386682.1:c.64+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386685.1:c.64+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386686.1:c.64+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386687.1:c.64+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386688.1:c.64+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386689.1:c.64+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386690.1:c.64+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001386691.1:c.64+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000966047Department of Pediatrics, Gifu University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(May 5, 2019) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedresearch

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, SCV000966047.1

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

Last Updated: Mar 30, 2024