NM_000018.2(ACADVL):c.1182+1G>A AND not provided

Clinical significance:Pathogenic (Last evaluated: May 24, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000210824.3

Allele description [Variation Report for NM_000018.2(ACADVL):c.1182+1G>A]

NM_000018.2(ACADVL):c.1182+1G>A

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_000018.2(ACADVL):c.1182+1G>A
HGVS:
  • NC_000017.11:g.7223238G>A
  • NG_007975.1:g.8405G>A
  • NM_000018.2:c.1182+1G>A
  • NM_000018.3:c.1078_1182del105
  • NM_001033859.1:c.1116+1G>A
  • NC_000017.10:g.7126557G>A
  • NM_000018.3:c.1182+1G>A
Note:
A mutation on the splice site of exon 11 causes skipping of exon 11 in the ACADVL mRNA product.
Nucleotide change:
IVS11DS, G-A, +1
Links:
OMIM: 609575.0002; dbSNP: rs113690956
NCBI 1000 Genomes Browser:
rs113690956

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238647GeneDxcriteria provided, single submitter
Pathogenic
(May 24, 2018)
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, SCV000238647.13

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

Description

The c.1182+1 G>A pathogenic variant in the ACADVL gene has been reported previously in patients with VLCAD deficiency (Strauss et al. 1995; Hoffmann et al. 2012; Burrage et al. 2015). cDNA analysis found that c.1182+1 G>A results in skipping of exon 11, leading to an in-frame deletion of 35 amino acids (Strauss et al. 1995). The c.1182+1 G>A 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). Therefore, we interpret c.1182+1 G>A as a pathogenic variant.

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

Last Updated: Apr 17, 2019

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