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NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 4, 2020
Accession:
VCV001067034.1
Variation ID:
1067034
Description:
single nucleotide variant
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NM_000019.4(ACAT1):c.1190A>G (p.His397Arg)

Allele ID
1055962
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108147296 (GRCh38) GRCh38 UCSC
11: 108018023 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108147296A>G
NC_000011.9:g.108018023A>G
NM_000019.4:c.1190A>G MANE Select NP_000010.1:p.His397Arg missense
... more HGVS
Protein change
H292R, H298R, H307R, H397R, H404R
Other names
-
Canonical SPDI
NC_000011.10:108147295:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 4, 2020 RCV001378187.1
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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
(Aug 04, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Invitae
Accession: SCV001575698.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces histidine with arginine at codon 397 of the ACAT1 protein (p.His397Arg). The histidine residue is highly conserved and there is a … (more)

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
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach. Catanzano F Journal of inherited metabolic disease 2010 PMID: 20157782
Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA. Zhang GX Pediatric research 2004 PMID: 15128923

Record last updated May 13, 2021