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NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 3, 2020
Accession:
VCV000002844.4
Variation ID:
2844
Description:
single nucleotide variant
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NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)

Allele ID
17883
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108142545 (GRCh38) GRCh38 UCSC
11: 108013272 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108142545T>C
NC_000011.9:g.108013272T>C
NM_000019.4:c.935T>C MANE Select NP_000010.1:p.Ile312Thr missense
... more HGVS
Protein change
I312T
Other names
-
Canonical SPDI
NC_000011.10:108142544:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
Links
UniProtKB: P24752#VAR_007504
OMIM: 607809.0013
dbSNP: rs120074146
ClinGen: CA252470
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Apr 3, 2020 RCV000002978.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACAT1 - - GRCh38
GRCh37
345 365

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(May 05, 2019)
criteria provided, single submitter
Method: research
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Department of Pediatrics, Gifu University
Accession: SCV000966096.1
Submitted: (May 12, 2019)
Evidence details
Publications
PubMed (1)
Pathogenic
(Apr 03, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Invitae
Accession: SCV001586092.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces isoleucine with threonine at codon 312 of the ACAT1 protein (p.Ile312Thr). The isoleucine residue is highly conserved and there is a … (more)
Pathogenic
(Jan 01, 1998)
no assertion criteria provided
Method: literature only
3-@KETOTHIOLASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000023136.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Abdelkreem E Human mutation 2019 PMID: 31268215
Inborn errors of ketone body utilization. Hori T Pediatrics international : official journal of the Japan Pediatric Society 2015 PMID: 25559898
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity. Fukao T Journal of inherited metabolic disease 2003 PMID: 14518824
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency. Fukao T Human mutation 1998 PMID: 9744475

Text-mined citations for rs120074146...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated May 13, 2021