Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000016.5(ACADM):c.387+1del

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(4);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 14, 2020
Accession:
VCV000188719.9
Variation ID:
188719
Description:
1bp deletion
Help

NM_000016.5(ACADM):c.387+1del

Allele ID
186629
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
1p31.1
Genomic location
1: 75733625 (GRCh38) GRCh38 UCSC
1: 76199310 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.76199314del
NC_000001.11:g.75733629del
NM_001127328.2:c.399+1del splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:75733624:GGGGG:GGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA273882
dbSNP: rs786204424
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 14, 2020 RCV000169015.8
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 10, 2018 RCV000383616.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ACADM - - GRCh38
GRCh37
457 485

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 11, 2018)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001158671.1
Submitted: (Aug 05, 2019)
Evidence details
Comment:
The ACADM c.387+1delG variant (rs786204424), also known as IVS 5+1delG, is reported in the literature in a compound heterozygous state in individuals affected with medium-chain … (more)
Pathogenic
(Oct 10, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133287.2
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one … (more)
Pathogenic
(May 17, 2019)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001361313.1
Submitted: (Mar 06, 2020)
Evidence details
Publications
PubMed (6)
Comment:
Variant summary: ACADM c.387+1delG is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to … (more)
Uncertain significance
(Oct 01, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000331022.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Oct 14, 2020)
criteria provided, single submitter
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: germline
Invitae
Accession: SCV000818999.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change affects a donor splice site in intron 5 of the ACADM gene. It is expected to disrupt RNA splicing and likely results … (more)
Likely pathogenic
(May 31, 2017)
no assertion criteria provided
Method: clinical testing
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000220157.2
Submitted: (Aug 05, 2019)
Evidence details
Publications
PubMed (3)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population. Li Y Pediatrics international : official journal of the Japan Pediatric Society 2019 PMID: 31033143
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. Narravula A Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 27308838
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. Bentler K Molecular genetics and metabolism 2016 PMID: 27477829
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. Sturm M PloS one 2012 PMID: 23028790
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Smith EH Molecular genetics and metabolism 2010 PMID: 20434380
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. Arnold GL Molecular genetics and metabolism 2010 PMID: 20036593
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. Rhead WJ Journal of inherited metabolic disease 2006 PMID: 16763904
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Waddell L Molecular genetics and metabolism 2006 PMID: 16291504
Splicing in action: assessing disease causing sequence changes. Baralle D Journal of medical genetics 2005 PMID: 16199547
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. Tolwani RJ PLoS genetics 2005 PMID: 16121256
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. Maier EM Human mutation 2005 PMID: 15832312
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=ACADM - - - -

Text-mined citations for rs786204424...

Help
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