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NM_000016.6(ACADM):c.154_156del (p.Ala52del) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 30, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001934723.6

Allele description [Variation Report for NM_000016.6(ACADM):c.154_156del (p.Ala52del)]

NM_000016.6(ACADM):c.154_156del (p.Ala52del)

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.6(ACADM):c.154_156del (p.Ala52del)
HGVS:
  • NC_000001.11:g.75732679_75732681del
  • NG_007045.2:g.13322_13324del
  • NM_000016.6:c.154_156delMANE SELECT
  • NM_001127328.3:c.166_168del
  • NM_001286042.2:c.46_48del
  • NM_001286043.2:c.154_156del
  • NM_001286044.2:c.-232_-230del
  • NP_000007.1:p.Ala52del
  • NP_001120800.1:p.Ala56del
  • NP_001272971.1:p.Ala16del
  • NP_001272972.1:p.Ala52del
  • LRG_838:g.13322_13324del
  • NC_000001.10:g.76198362_76198364del
  • NC_000001.10:g.76198364_76198366del
Protein change:
A16del
Links:
dbSNP: rs2100362599
NCBI 1000 Genomes Browser:
rs2100362599
Molecular consequence:
  • NM_001286044.2:c.-232_-230del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000016.6:c.154_156del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001127328.3:c.166_168del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001286042.2:c.46_48del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001286043.2:c.154_156del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)
Synonyms:
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency
Identifiers:
MONDO: MONDO:0008721; MedGen: C0220710; Orphanet: 42; OMIM: 201450

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002133937Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 30, 2021) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.

Maier EM, Liebl B, Röschinger W, Nennstiel-Ratzel U, Fingerhut R, Olgemöller B, Busch U, Krone N, v Kries R, Roscher AA.

Hum Mutat. 2005 May;25(5):443-52.

PubMed [citation]
PMID:
15832312

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.

Maier EM, Gersting SW, Kemter KF, Jank JM, Reindl M, Messing DD, Truger MS, Sommerhoff CP, Muntau AC.

Hum Mol Genet. 2009 May 1;18(9):1612-23. doi: 10.1093/hmg/ddp079. Epub 2009 Feb 18.

PubMed [citation]
PMID:
19224950
PMCID:
PMC2667288
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002133937.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts a region of the ACADM protein in which other variant(s) (p.Ala52Val) have been observed in individuals with ACADM-related conditions (PMID: 15832312, 19224950, 24718418). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has been observed in individual(s) with medium-chain acyl-coenzyme A dehydrogenase deficiency (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (ExAC no frequency). This variant, c.154_156del, results in the deletion of 1 amino acid(s) of the ACADM protein (p.Ala52del), but otherwise preserves the integrity of the reading frame.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024