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NM_000019.4(ACAT1):c.60G>C (p.Arg20=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000193031.5
Variation ID:
193031
Description:
single nucleotide variant
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NM_000019.4(ACAT1):c.60G>C (p.Arg20=)

Allele ID
190196
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108121666 (GRCh38) GRCh38 UCSC
11: 107992393 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.108121666G>C
NC_000011.9:g.107992393G>C
NM_000019.4:c.60G>C MANE Select NP_000010.1:p.Arg20= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108121665:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (C)

Allele frequency
1000 Genomes Project 0.00220
The Genome Aggregation Database (gnomAD) 0.00226
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00175
Trans-Omics for Precision Medicine (TOPMed) 0.00216
Links
ClinGen: CA238541
dbSNP: rs77311724
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 8, 2014 RCV000173048.3
Benign 2 criteria provided, single submitter Nov 26, 2020 RCV001086332.3
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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
Uncertain significance
(Jul 08, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000224127.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Invitae
Accession: SCV001017178.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 29, 2020)
no assertion criteria provided
Method: clinical testing
Alpha-methylacetoacetic aciduria
Allele origin: germline
Natera, Inc.
Accession: SCV001456954.1
Submitted: (Dec 28, 2020)
Evidence details

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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ACAT1 - - - -

Text-mined citations for rs77311724...

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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 Jun 14, 2021