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NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Feb 1, 2019)
Last evaluated:
Aug 14, 2018
Accession:
VCV000030611.2
Variation ID:
30611
Description:
single nucleotide variant
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NM_000017.4(ACADS):c.164C>T (p.Pro55Leu)

Allele ID
39568
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.31
Genomic location
12: 120727143 (GRCh38) GRCh38 UCSC
12: 121164946 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.121164946C>T
NC_000012.12:g.120727143C>T
NM_000017.4:c.164C>T MANE Select NP_000008.1:p.Pro55Leu missense
... more HGVS
Protein change
P55L
Other names
-
Canonical SPDI
NC_000012.12:120727142:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00007
Trans-Omics for Precision Medicine (TOPMed) 0.00005
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA259857
OMIM: 606885.0014
dbSNP: rs147442301
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 3 criteria provided, multiple submitters, no conflicts Aug 14, 2018 RCV000023585.3
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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
237 254

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 31, 2017)
criteria provided, single submitter
Method: clinical testing
Deficiency of butyryl-CoA dehydrogenase
Allele origin: unknown
Counsyl
Accession: SCV000793186.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (5)
Pathogenic
(Aug 14, 2018)
criteria provided, single submitter
Method: clinical testing
Deficiency of butyryl-CoA dehydrogenase
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000914564.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (5)
Comment:
The ACADS c.164C>T (p.Pro55Leu) missense variant has been reported in four studies in which it is found in a total of six individuals with SCAD … (more)
Pathogenic
(Jun 01, 2010)
no assertion criteria provided
Method: literature only
SCAD DEFICIENCY, MILD
Allele origin: germline
OMIM
Accession: SCV000044876.1
Submitted: (Oct 05, 2011)
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
Compound heterozygous mutations of <i>ACADS</i> gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review. An SJ Korean journal of pediatrics 2016 PMID: 28018444
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]. Huang XW Zhonghua er ke za zhi = Chinese journal of pediatrics 2016 PMID: 27938594
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency. Kim YM Annals of clinical and laboratory science 2016 PMID: 27466294
Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases. Liu Y PloS one 2015 PMID: 26274329
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. Shirao K Human genetics 2010 PMID: 20376488
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening. Jethva R Molecular genetics and metabolism 2008 PMID: 18951053

Text-mined citations for rs147442301...

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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 Apr 17, 2020