NM_000016.6(ACADM):c.423_425del (p.Lys144del) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 17, 2024
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:: RCV001242051.8

Allele description [Variation Report for NM_000016.6(ACADM):c.423_425del (p.Lys144del)]

NM_000016.6(ACADM):c.423_425del (p.Lys144del)

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.423_425del (p.Lys144del)

HGVS:

NC_000001.11:g.75734826_75734828del
NG_007045.2:g.15469_15471del
NM_000016.4:c.423_425del
NM_000016.6:c.423_425delMANE SELECT
NM_001127328.3:c.435_437del
NM_001286042.2:c.315_317del
NM_001286043.2:c.522_524del
NM_001286044.2:c.-100+1904_-100+1906del
NP_000007.1:p.Lys144del
NP_000007.1:p.Lys144del
NP_001120800.1:p.Lys148del
NP_001272971.1:p.Lys108del
NP_001272972.1:p.Lys177del
LRG_838t1:c.423_425del
LRG_838:g.15469_15471del
LRG_838p1:p.Lys144del
NC_000001.10:g.76200510_76200512del
NC_000001.10:g.76200511_76200513del
NM_000016.5:c.423_425del

Protein change:

K108del

Links:

dbSNP: rs886042087

NCBI 1000 Genomes Browser:

rs886042087

Molecular consequence:

NM_000016.6:c.423_425del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001127328.3:c.435_437del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001286042.2:c.315_317del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001286043.2:c.522_524del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001286044.2:c.-100+1904_-100+1906del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001415113	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 17, 2024)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 20434380, 21083904, 23028790, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001415113

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 17, 2024)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D.

Mol Genet Metab. 2010 Jul;100(3):241-50. doi: 10.1016/j.ymgme.2010.04.001. Epub 2010 Apr 8.

PubMed [citation]

PMID:: 20434380

The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.

Kennedy S, Potter BK, Wilson K, Fisher L, Geraghty M, Milburn J, Chakraborty P.

BMC Pediatr. 2010 Nov 17;10:82. doi: 10.1186/1471-2431-10-82.

PubMed [citation]

PMID:: 21083904
PMCID:: PMC2996355

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001415113.5

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

Description

This variant, c.423_425del, results in the deletion of 1 amino acid(s) of the ACADM protein (p.Lys144del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has been observed in individual(s) with clinical features of medium chain acyl-CoA dehydrogenase (MCAD) deficiency (PMID: 20434380, 21083904, 23028790; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 281055). For these reasons, this variant has been classified as Pathogenic.

#	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: Oct 20, 2024

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