NM_000018.4(ACADVL):c.889_891del (p.Glu297del) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Feb 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000185737.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.889_891del (p.Glu297del)]

NM_000018.4(ACADVL):c.889_891del (p.Glu297del)

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.889_891del (p.Glu297del)
HGVS:
  • NC_000017.11:g.7222677_7222679del
  • NG_007975.1:g.7844_7846del
  • NG_008391.2:g.2372_2374del
  • NM_000018.4:c.889_891delMANE SELECT
  • NM_001033859.2:c.823_825del
  • NM_001270447.1:c.958_960del
  • NM_001270448.1:c.661_663del
  • NP_000009.1:p.Glu297del
  • NP_001029031.1:p.Glu275del
  • NP_001257376.1:p.Glu320del
  • NP_001257377.1:p.Glu221del
  • NC_000017.10:g.7125996_7125998del
  • NC_000017.10:g.7125996_7125998delGAG
  • NM_000018.2:c.889_891delGAG
  • NM_000018.3:c.889_891del
  • NM_000018.3:c.889_891delGAG
  • p.E297del
Protein change:
E221del
Links:
dbSNP: rs796051914
NCBI 1000 Genomes Browser:
rs796051914
Molecular consequence:
  • NM_000018.4:c.889_891del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001033859.2:c.823_825del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001270447.1:c.958_960del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001270448.1:c.661_663del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238665GeneDxcriteria provided, single submitter
Likely pathogenic
(Feb 16, 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, SCV000238665.11

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

Description

The c.889_891delGAG variant has been reported in an individual with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency who was heterozygous for another variant in the ACADVL gene (Brown et al., 2014). The c.889_891delGAG variant causes the loss of a single Glutamic Acid residue at amino acid position 297, denoted p.Glu297del. The Glu297 amino acid is a highly conserved residue that is located in a functional region of the ACADVL protein. Other deletions of single amino acids (p.Glu130del, p.Lys299del) have been reported in association with VLCAD deficiency (Souri et al., 1996). Therefore we interpret c.889_891delGAG to be a likely pathogenic variant.

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

Last Updated: Apr 12, 2021

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