NM_000016.6(ACADM):c.1087G>A (p.Asp363Asn) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Feb 20, 2015
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:: RCV000211452.9

Allele description [Variation Report for NM_000016.6(ACADM):c.1087G>A (p.Asp363Asn)]

NM_000016.6(ACADM):c.1087G>A (p.Asp363Asn)

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.1087G>A (p.Asp363Asn)

HGVS:

NC_000001.11:g.75761263G>A
NG_007045.2:g.41906G>A
NM_000016.6:c.1087G>AMANE SELECT
NM_001127328.3:c.1099G>A
NM_001286042.2:c.979G>A
NM_001286043.2:c.1186G>A
NM_001286044.2:c.520G>A
NP_000007.1:p.Asp363Asn
NP_000007.1:p.Asp363Asn
NP_001120800.1:p.Asp367Asn
NP_001272971.1:p.Asp327Asn
NP_001272972.1:p.Asp396Asn
NP_001272973.1:p.Asp174Asn
LRG_838t1:c.1087G>A
LRG_838:g.41906G>A
LRG_838p1:p.Asp363Asn
NC_000001.10:g.76226948G>A
NM_000016.4:c.1087G>A
NM_000016.5:c.1087G>A

Protein change:

D174N

Links:

dbSNP: rs875989866

NCBI 1000 Genomes Browser:

rs875989866

Molecular consequence:

NM_000016.6:c.1087G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001127328.3:c.1099G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001286042.2:c.979G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001286043.2:c.1186G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001286044.2:c.520G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268475	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 20, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001460298	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jan 24, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268475

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 20, 2015)

germline

clinical testing

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

SCV001460298

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jan 24, 2020)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical 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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000268475.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	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)	1	not provided	not provided	not provided

From Natera, Inc., SCV001460298.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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		not provided	not provided	not provided	not provided

Last Updated: Mar 4, 2023

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