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NM_000018.4(ACADVL):c.752+24C>T AND Very long chain acyl-CoA dehydrogenase deficiency

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 28, 2017
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:
RCV000671689.1

Allele description [Variation Report for NM_000018.4(ACADVL):c.752+24C>T]

NM_000018.4(ACADVL):c.752+24C>T

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.752+24C>T
HGVS:
  • NC_000017.11:g.7222105C>T
  • NG_007975.1:g.7272C>T
  • NG_008391.2:g.2946G>A
  • NM_000018.4:c.752+24C>TMANE SELECT
  • NM_001033859.3:c.686+24C>T
  • NM_001270447.2:c.821+24C>T
  • NM_001270448.2:c.524+24C>T
  • NC_000017.10:g.7125424C>T
  • NM_000018.3:c.752+24C>T
Links:
dbSNP: rs201030339
NCBI 1000 Genomes Browser:
rs201030339
Molecular consequence:
  • NM_000018.4:c.752+24C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001033859.3:c.686+24C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001270447.2:c.821+24C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001270448.2:c.524+24C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000796689Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely benign
(Dec 28, 2017) 		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 Counsyl, SCV000796689.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023