NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 2, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000493456.1

Allele description [Variation Report for NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)]

NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)

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.1160T>C (p.Ile387Thr)
HGVS:
  • NC_000011.10:g.108146356T>C
  • NG_009888.1:g.29826T>C
  • NG_009888.2:g.34652T>C
  • NM_000019.4:c.1160T>CMANE SELECT
  • NP_000010.1:p.Ile387Thr
  • LRG_1400t1:c.1160T>C
  • LRG_1400:g.34652T>C
  • LRG_1400p1:p.Ile387Thr
  • NC_000011.9:g.108017083T>C
  • NM_000019.3:c.1160T>C
Protein change:
I387T
Links:
dbSNP: rs748303093
NCBI 1000 Genomes Browser:
rs748303093
Molecular consequence:
  • NM_000019.4:c.1160T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000582426GeneDxcriteria provided, single submitter
Likely pathogenic
(Oct 2, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000582426.4

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

Description

The I387T variant in the ACAT1 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The I387T variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I387T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Missense variants in nearby residues (G379V, A380T, S390P, H397D) have been reported in the Human Gene Mutation Database in association with acetoacetyl-CoA thiolase deficiency (also known as alpha-methylacetoacetic aciduria) (Stenson et al., 2014), supporting the functional importance of this region of the protein. The I387T variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded

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

Last Updated: Aug 27, 2021

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