NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Feb 20, 2015
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000003771.2

Allele description

NM_000016.5(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_000016.5(ACADM):c.799G>A (p.Gly267Arg)

Other names:

p.G267R:GGA>AGA

HGVS:

NC_000001.11:g.75749509G>A
NG_007045.2:g.30152G>A
NM_000016.5:c.799G>A
NP_000007.1:p.Gly267Arg
NC_000001.10:g.76215194G>A
NG_007045.1:g.30152G>A
NM_000016.4:c.799G>A
P11310:p.Gly267Arg

Nucleotide change:

799G>A

Protein change:

G267R; GLY267ARG

Links:

UniProtKB: P11310#VAR_000323; OMIM: 607008.0003; dbSNP: rs121434274

NCBI 1000 Genomes Browser:

rs121434274

Allele Frequency:

0.0001, GO-ESP

Molecular consequence:

NM_000016.5:c.799G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023936	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1991)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000232890	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Oct 23, 2014)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 1684086, 23028790 Citation Link,
SCV000268497	ARUP Laboratories, Molecular Genetics and Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 20, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023936

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1991)

germline

literature only

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

SCV000232890

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Oct 23, 2014)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000268497

ARUP Laboratories, Molecular Genetics and Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 20, 2015)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	4	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K.

Am J Hum Genet. 1991 Dec;49(6):1280-91.

PubMed [citation]

PMID:: 1684086
PMCID:: PMC1686456

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants.

Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U.

PLoS One. 2012;7(9):e45110. doi: 10.1371/journal.pone.0045110. Epub 2012 Sep 17.

PubMed [citation]

PMID:: 23028790
PMCID:: PMC3444485

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000023936.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Yokota et al. (1991) found a G-to-A transition at position 799 in 2 of 110 mutant MCAD alleles studied.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000232890.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		4	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, SCV000268497.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	8	not provided	not provided	clinical testing (GTR000500814.1)	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided	(GTR000500814.1)	8	not provided	not provided	not provided

Last Updated: Nov 4, 2017

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