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NM_000019.4(ACAT1):c.890C>T (p.Thr297Met) AND ACAT1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 13, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003417871.5

Allele description [Variation Report for NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)]

NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)

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.890C>T (p.Thr297Met)
HGVS:
  • NC_000011.10:g.108142500C>T
  • NG_009888.2:g.30796C>T
  • NM_000019.4:c.890C>TMANE SELECT
  • NP_000010.1:p.Thr297Met
  • LRG_1400t1:c.890C>T
  • LRG_1400:g.30796C>T
  • LRG_1400p1:p.Thr297Met
  • NC_000011.9:g.108013227C>T
  • NG_009888.1:g.25970C>T
  • NM_000019.3:c.890C>T
  • P24752:p.Thr297Met
Protein change:
T297M
Links:
UniProtKB: P24752#VAR_007502; dbSNP: rs886041122
NCBI 1000 Genomes Browser:
rs886041122
Molecular consequence:
  • NM_000019.4:c.890C>T - 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
SCV004114807PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Sep 13, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004114807.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The ACAT1 c.890C>T variant is predicted to result in the amino acid substitution p.Thr297Met. This variant has been reported in the compound heterozygous state in an individual with acetoacetyl-CoA thiolase deficiency (Fukao et al. 1995. PubMed ID: 7749408; Wakazono et al. 1995. PubMed ID: 7728148). Experimental studies suggest this variant impacts protein function (Fukao et al. 1995. PubMed ID: 7749408). A different amino acid substitution at this position (p.Thr297Lys) has been reported to be pathogenic (Su et al. 2017. PubMed ID: 28875337). This variant is reported in 0.0054% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as likely pathogenic.

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

Last Updated: Jan 13, 2025