NM_000018.4(ACADVL):c.343del AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 13, 2022
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:: RCV003128226.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.343del]

NM_000018.4(ACADVL):c.343del

Gene:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000018.4(ACADVL):c.343del

Other names:

ACADVL, 135-BP DEL; NM_000018.2(ACADVL):c.343delG; p.Glu115Lysfs

HGVS:

NC_000017.11:g.7220924del
NG_007975.1:g.6091del
NG_008391.2:g.4128del
NM_000018.4:c.343delMANE SELECT
XR_934023.2:n.402del
NC_000017.10:g.7124242del
NC_000017.10:g.7124243del
NC_000017.10:g.7124243del
NC_000017.11:g.7220924del
NM_000018.2:c.343delG
NM_000018.3:c.343del
NM_000018.3:c.343delG
NM_000018.4:c.343delGMANE SELECT

Links:

OMIM: 609575.0004; OMIM: 609575.0005; dbSNP: rs387906249

NCBI 1000 Genomes Browser:

rs387906249

Molecular consequence:

NM_000018.4:c.343del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Functional consequence:

exon loss [PubMedVariation Ontology: 0381]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

Recent activity

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MULTISPECIES: translation elongation factor 4 [Enterobacteriaceae]
MULTISPECIES: translation elongation factor 4 [Enterobacteriaceae]
gi|446712824|ref|WP_000790168.1|

Protein
hypothetical protein [Burkholderia pseudomallei]
hypothetical protein [Burkholderia pseudomallei]
gi|497659261|ref|WP_009973445.1|

Protein
Chain U, 30S RIBOSOMAL PROTEIN THX
Chain U, 30S RIBOSOMAL PROTEIN THX
gi|307776632|pdb|3OTO|U

Protein
rpsT [Thermus thermophilus HB8]
rpsT [Thermus thermophilus HB8]
Gene ID:3168087

Gene
Homologene neighbors for GEO Profiles (Select 46504350) (0)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003529802	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Pathogenic (Sep 13, 2022)	germline	clinical testing	PubMed (7) [See all records that cite these PMIDs] 35281659, 34194748, 28871440, 27246109, 23867825, 26385305, 32928639 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003529802

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Pathogenic
(Sep 13, 2022)

germline

clinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

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	1	not provided	clinical testing

Citations

PubMed

Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.

Olsson D, Barbaro M, Haglind C, Halldin M, Lajic S, Tucci S, Zetterström RH, Nordenström A.

JIMD Rep. 2022 Mar;63(2):181-190. doi: 10.1002/jmd2.12268.

PubMed [citation]

PMID:: 35281659
PMCID:: PMC8898720

Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).

Vallejo AN, Mroczkowski HJ, Michel JJ, Woolford M, Blair HC, Griffin P, McCracken E, Mihalik SJ, Reyes-Mugica M, Vockley J.

Clin Transl Immunology. 2021;10(6):e1304. doi: 10.1002/cti2.1304.

PubMed [citation]

PMID:: 34194748
PMCID:: PMC8236555

See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV003529802.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (7)

Description

The c.343delG (p.E115Kfs*2) alteration, located in exon 6 (coding exon 6) of the ACADVL gene, consists of a deletion of one nucleotide at position 343, causing a translational frameshift with a predicted alternate stop codon after 2 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the c.343delG allele has an overall frequency of 0.001% (4/282800) total alleles studied. The highest observed frequency was 0.004% (1/24962) of African alleles. This variant has been identified homozygous or with a second ACADVL variant in multiple individuals diagnosed with very long chain acyl-CoA dehydrogenase deficiency (Ndukwe Erlingsson, 2013; Miller, 2015; Evans, 2016; Gillingham, 2017; Elizondo, 2020; Vallejo, 2021; Olsson, 2022). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Jun 17, 2024

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