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NM_000018.4(ACADVL):c.[1097G>A;869del] AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 1, 2019
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001075886.2

Alleles description [Variation Report for NM_000018.4(ACADVL):c.[1097G>A;869del]]

NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His)
Other names:
p.R366H:CGT>CAT; NM_000018.4(ACADVL):c.1097G>A
HGVS:
  • NC_000017.11:g.7223152G>A
  • NG_007975.1:g.8319G>A
  • NG_008391.2:g.1899C>T
  • NM_000018.4:c.1097G>AMANE SELECT
  • NM_001033859.3:c.1031G>A
  • NM_001270447.2:c.1166G>A
  • NM_001270448.2:c.869G>A
  • NP_000009.1:p.Arg366His
  • NP_001029031.1:p.Arg344His
  • NP_001257376.1:p.Arg389His
  • NP_001257376.1:p.Arg389His
  • NP_001257377.1:p.Arg290His
  • NP_001257377.1:p.Arg290His
  • NC_000017.10:g.7126471G>A
  • NM_000018.2:c.1097G>A
  • NM_000018.3:c.1097G>A
  • NM_001270447.1:c.1166G>A
  • NM_001270448.1:c.869G>A
  • P49748:p.Arg366His
Protein change:
R290H
Links:
UniProtKB: P49748#VAR_000350; dbSNP: rs112406105
NCBI 1000 Genomes Browser:
rs112406105
Molecular consequence:
  • NM_000018.4:c.1097G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.1031G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.1166G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]

NM_000018.4(ACADVL):c.869del (p.Gly290fs)

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.869del (p.Gly290fs)
HGVS:
  • NC_000017.11:g.7222293del
  • NG_007975.1:g.7460del
  • NG_008391.2:g.2762del
  • NM_000018.4:c.869delMANE SELECT
  • NM_001033859.3:c.803del
  • NM_001270447.2:c.938del
  • NM_001270448.2:c.641del
  • NP_000009.1:p.Gly290fs
  • NP_001029031.1:p.Gly268fs
  • NP_001257376.1:p.Gly313fs
  • NP_001257377.1:p.Gly214fs
  • NC_000017.10:g.7125608del
  • NC_000017.10:g.7125612del
  • NM_001270447.1:c.938delG
Protein change:
G214fs
Links:
dbSNP: rs886044671
NCBI 1000 Genomes Browser:
rs886044671
Molecular consequence:
  • NM_000018.4:c.869del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001033859.3:c.803del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270447.2:c.938del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001270448.2:c.641del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001241527Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences
no assertion criteria provided
Likely pathogenic
(Dec 1, 2019) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences, SCV001241527.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

This 27-year-old woman referred to the emergency department without a history of previous illness, with muscle weakness of four extremities from three days before. She reported an episode of dark urine after prolonged exercise from one-week ago. The parents were second cousins. Two brothers, one at the age of 3 and the other one at the age of 4, and her sister during infancy had died of cardiomyopathy; she had an older sister and three younger brothers, who were healthy. The CK was 46000 IU/L during admission; echocardiography was normal, and electromyography was myopathic in proximal and distal muscles of upper and lower extremities with prominent spontaneous activity. Subsequently, the patient developed acute kidney injury (serum creatinine 8.2 mg/dL), and hemodialysis was begun for the patient. Muscle strength improved over several weeks.

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

Last Updated: Jun 17, 2024