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NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser) AND ACAT1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 2022
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:
RCV003396461.4

Allele description [Variation Report for NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)]

NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)

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.1124A>G (p.Asn375Ser)
HGVS:
  • NC_000011.10:g.108146320A>G
  • NG_009888.2:g.34616A>G
  • NM_000019.4:c.1124A>GMANE SELECT
  • NP_000010.1:p.Asn375Ser
  • LRG_1400t1:c.1124A>G
  • LRG_1400:g.34616A>G
  • LRG_1400p1:p.Asn375Ser
  • NC_000011.9:g.108017047A>G
  • NG_009888.1:g.29790A>G
  • NM_000019.3:c.1124A>G
Protein change:
N375S
Links:
dbSNP: rs373771053
NCBI 1000 Genomes Browser:
rs373771053
Molecular consequence:
  • NM_000019.4:c.1124A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ACAT1-related disorder
Synonyms:
ACAT1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004105742PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 25, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004105742.1

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

Description

The ACAT1 c.1124A>G variant is predicted to result in the amino acid substitution p.Asn375Ser. This variant has been reported in the homozygous state in at least two individuals with mitochondrial Acetoacetyl-CoA thiolase deficiency (Fukao et al 2008. PubMed ID: 18511318; Abdelkreem E et al 2017. PubMed ID: 27928777). Functional studies have shown that this variant activates a cryptic splice donor site 5 bases upstream from c.1124A>C within exon 11, causing aberrant splicing with a frameshift (Fukao et al. 2008. PubMed ID: 18511318). This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-108017047-A-G). This variant is interpreted as pathogenic.

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

Last Updated: Sep 29, 2024