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NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 26, 2020
Accession:
VCV000003835.5
Variation ID:
3835
Description:
single nucleotide variant
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NM_000017.4(ACADS):c.973C>T (p.Arg325Trp)

Allele ID
18874
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 120738859 (GRCh38) GRCh38 UCSC
12: 121176662 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.121176662C>T
NC_000012.12:g.120738859C>T
NM_000017.4:c.973C>T MANE Select NP_000008.1:p.Arg325Trp missense
... more HGVS
Protein change
R325W, R321W
Other names
R301W
p.R325W:CGG>TGG
Canonical SPDI
NC_000012.12:120738858:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Exome Aggregation Consortium (ExAC) 0.00002
Links
OMIM: 606885.0011
dbSNP: rs121908006
ClinGen: CA252887
UniProtKB: P16219#VAR_013569
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 Aug 26, 2020 RCV000004039.6
Pathogenic 1 criteria provided, single submitter Aug 3, 2017 RCV000185689.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADS - - GRCh38
GRCh37
229 246

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 03, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000238610.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R325W missense variant in the ACADS gene has been reported previously in association with short chain acyl-CoA dehydrogenase (SCAD) deficiency (Corydon et al., 2001). … (more)
Uncertain significance
(Aug 26, 2020)
criteria provided, single submitter
Method: clinical testing
Deficiency of butyryl-CoA dehydrogenase
Allele origin: germline
Invitae
Accession: SCV000756733.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 325 of the ACADS protein (p.Arg325Trp). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Jan 01, 2001)
no assertion criteria provided
Method: literature only
SCAD DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000024205.1
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
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Corydon MJ Pediatric research 2001 PMID: 11134486

Text-mined citations for rs121908006...

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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 07, 2021