NM_000018.3(ACADVL):c.753-2A>C AND not provided

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000077923.5

Allele description [Variation Report for NM_000018.3(ACADVL):c.753-2A>C]

NM_000018.3(ACADVL):c.753-2A>C

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_000018.3(ACADVL):c.753-2A>C
HGVS:
  • NC_000017.11:g.7222175A>C
  • NG_007975.1:g.7342A>C
  • NM_000018.3:c.753-2A>C
  • NC_000017.10:g.7125494A>C
  • NM_000018.2:c.753-2A>C
Links:
dbSNP: rs398123092
NCBI 1000 Genomes Browser:
rs398123092
Molecular consequence:
  • NM_000018.3:c.753-2A>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000616632GeneDxcriteria provided, single submitter
Pathogenic
(Aug 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000616632.1

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

Description

The c.753-2 A>C splice site variant in the ACADVL gene has been previously reported in association with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (Andresen et al., 1999; Evans et al., 2016). The c.753-2 A>C variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This pathogenic variant destroys the canonical splice acceptor site in intron 8, and is expected to cause abnormal gene splicing.

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

Last Updated: Mar 30, 2019

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