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NM_000019.4(ACAT1):c.378T>C (p.Cys126=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 25, 2020
Accession:
VCV000877557.2
Variation ID:
877557
Description:
single nucleotide variant
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NM_000019.4(ACAT1):c.378T>C (p.Cys126=)

Allele ID
866938
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q22.3
Genomic location
11: 108135185 (GRCh38) GRCh38 UCSC
11: 108005912 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.108005912T>C
NC_000011.10:g.108135185T>C
NM_000019.4:c.378T>C MANE Select NP_000010.1:p.Cys126= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:108135184:T:C
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
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 25, 2020 RCV001103374.2
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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
(Jan 15, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001260128.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jul 25, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of acetyl-CoA acetyltransferase
Allele origin: germline
Invitae
Accession: SCV001711712.1
Submitted: (Jan 07, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 14, 2021