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NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 19, 2019
Accession:
VCV000438580.4
Variation ID:
438580
Description:
single nucleotide variant
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NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)

Allele ID
432201
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108147305 (GRCh38) GRCh38 UCSC
11: 108018032 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108147305A>G
NC_000011.9:g.108018032A>G
NM_000019.4:c.1199A>G MANE Select NP_000010.1:p.His400Arg missense
... more HGVS
Protein change
H400R
Other names
-
Canonical SPDI
NC_000011.10:108147304:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA6263404
dbSNP: rs761086326
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Mar 19, 2019 RCV000505498.4
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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
343 363

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 19, 2019)
criteria provided, single submitter
Method: clinical testing
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Invitae
Accession: SCV000940586.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with arginine at codon 400 of the ACAT1 protein (p.His400Arg). The histidine residue is highly conserved and there is a … (more)
Likely pathogenic
(Sep 11, 2017)
no assertion criteria provided
Method: clinical testing
Deficiency of acetyl-CoA acetyltransferase
(Autosomal recessive inheritance)
Allele origin: germline
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
Accession: SCV000599597.1
Submitted: (Sep 14, 2017)
Evidence details
Comment:
The variant c.1199A>G(p.H400R) is not reported in 1000 genomes database and has minor allele frequency of 0.0016% in ExAC database. The in silico prediction of … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs761086326...

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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 Mar 14, 2021