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NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) AND ACADM-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 27, 2023
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:
RCV003415641.4

Allele description [Variation Report for NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)]

NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
Other names:
p.G267R:GGA>AGA; p.G267R
HGVS:
  • NC_000001.11:g.75749509G>A
  • NG_007045.2:g.30152G>A
  • NM_000016.6:c.799G>AMANE SELECT
  • NM_001127328.3:c.811G>A
  • NM_001286042.2:c.691G>A
  • NM_001286043.2:c.898G>A
  • NM_001286044.2:c.232G>A
  • NP_000007.1:p.Gly267Arg
  • NP_000007.1:p.Gly267Arg
  • NP_001120800.1:p.Gly271Arg
  • NP_001120800.1:p.Gly271Arg
  • NP_001272971.1:p.Gly231Arg
  • NP_001272972.1:p.Gly300Arg
  • NP_001272973.1:p.Gly78Arg
  • LRG_838t1:c.799G>A
  • LRG_838:g.30152G>A
  • LRG_838p1:p.Gly267Arg
  • NC_000001.10:g.76215194G>A
  • NM_000016.4:c.799G>A
  • NM_000016.5:c.799G>A
  • NM_001127328.1:c.811G>A
  • NM_001127328.2:c.811G>A
  • P11310:p.Gly267Arg
  • p.Gly271Arg
Nucleotide change:
799G>A
Protein change:
G231R; GLY267ARG
Links:
UniProtKB: P11310#VAR_000323; OMIM: 607008.0003; dbSNP: rs121434274
NCBI 1000 Genomes Browser:
rs121434274
Molecular consequence:
  • NM_000016.6:c.799G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127328.3:c.811G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286042.2:c.691G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286043.2:c.898G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286044.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ACADM-related disorder
Synonyms:
ACADM-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004116568PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Sep 27, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004116568.1

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

Description

The ACADM c.799G>A variant is predicted to result in the amino acid substitution p.Gly267Arg. This variant, which has also been referred to in the literature as p.Gly242Arg, has been documented in the homozygous or compound heterozygous state in multiple medium chain acyl-CoA dehydrogenase deficiency (MCADD) patients (Yokota et al. 1991. PubMed ID: 1684086; Sturm et al. 2012. PubMed ID: 23028790; Koster et al. 2014. PubMed ID: 24966162). In functional studies, the MCAD protein levels and enzyme activity were significantly reduced (Sturm et al. 2012. PubMed ID: 23028790; Koster et al. 2014. PubMed ID: 24966162). In summary, we classify this variant as pathogenic.

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

Last Updated: May 19, 2024