NM_000018.3(ACADVL):c.829_831delGAG (p.Glu277del) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Mar 27, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000185735.3

Allele description [Variation Report for NM_000018.3(ACADVL):c.829_831delGAG (p.Glu277del)]

NM_000018.3(ACADVL):c.829_831delGAG (p.Glu277del)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.3(ACADVL):c.829_831delGAG (p.Glu277del)
HGVS:
  • NC_000017.11:g.7222253_7222255delGAG
  • NM_000018.3:c.829_831delGAG
  • NP_000009.1:p.Glu277del
  • NC_000017.10:g.7125572_7125574delGAG
  • NM_000018.2:c.829_831delGAG
  • p.E277del
Protein change:
E277del
Links:
dbSNP: rs796051913
NCBI 1000 Genomes Browser:
rs796051913
Molecular consequence:
  • NM_000018.3:c.829_831delGAG - inframe_variant - [Sequence Ontology: SO:0001650]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238663GeneDxcriteria provided, single submitter
Likely pathogenic
(Mar 27, 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, SCV000238663.11

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

Description

The c.829_831delGAG variant in the ACADVL gene has been reported previously in a child with 26% of mean normal very long-chain acyl-CoA dehydrogenase (VLCAD) activity who was heterozygous for a single c.829_831delGAG mutation (Spiekerkoetter et al., 2010). This deletion of three nucleotides causes a deletion of a Glutamic Acid residue at codon 277, denoted p.Glu277del. This variant has also been seen numerous times in patients referred to GeneDx for ACADVL sequencing who were also heterozygous for another pathogenic variant in ACADVL. Therefore, we interpret c.829_831delGAG to be a pathogenic variant.

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

Last Updated: Mar 30, 2019

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