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NM_000018.4(ACADVL):c.850_851insC (p.Val284fs) AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 1, 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:
RCV002309489.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)]

NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.850_851insC (p.Val284fs)
HGVS:
  • NC_000017.11:g.7222274_7222275insC
  • NG_007975.1:g.7441_7442insC
  • NG_008391.2:g.2776_2777insG
  • NG_008391.3:g.2775_2776insG
  • NM_000018.4:c.850_851insCMANE SELECT
  • NM_001033859.3:c.784_785insC
  • NM_001270447.2:c.919_920insC
  • NM_001270448.2:c.622_623insC
  • NP_000009.1:p.Val284fs
  • NP_001029031.1:p.Val262fs
  • NP_001257376.1:p.Val307fs
  • NP_001257377.1:p.Val208fs
  • NC_000017.10:g.7125593_7125594insC
Protein change:
V208fs
Molecular consequence:
  • NM_000018.4:c.850_851insC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033859.3:c.784_785insC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270447.2:c.919_920insC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270448.2:c.622_623insC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Very long chain acyl-CoA dehydrogenase deficiency (ACADVLD)
Synonyms:
VLCAD deficiency
Identifiers:
MONDO: MONDO:0008723; MedGen: C3887523; Orphanet: 26793; OMIM: 201475

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603867Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Apr 1, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603867.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000018.3(ACADVL):c.850_851insC(V284Afs*14) is expected to be pathogenic in the context of very-long-chain acyl-CoA dehydrogenase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ACADVL, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022