NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) AND not provided

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Oct 12, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000185715.2

Allele description [Variation Report for NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)]

NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu)

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.881G>A (p.Gly294Glu)
Other names:
p.G294E:GGG>GAG
HGVS:
  • NC_000017.11:g.7222669G>A
  • NG_007975.1:g.7836G>A
  • NG_008391.2:g.2382C>T
  • NM_000018.4:c.881G>AMANE SELECT
  • NM_001033859.2:c.815G>A
  • NM_001270447.1:c.950G>A
  • NM_001270448.1:c.653G>A
  • NP_000009.1:p.Gly294Glu
  • NP_001029031.1:p.Gly272Glu
  • NP_001257376.1:p.Gly317Glu
  • NP_001257377.1:p.Gly218Glu
  • NC_000017.10:g.7125988G>A
  • NM_000018.2:c.881G>A
  • NM_000018.3:c.881G>A
  • P49748:p.Gly294Glu
Protein change:
G218E
Links:
UniProtKB: P49748#VAR_000344; dbSNP: rs200573371
NCBI 1000 Genomes Browser:
rs200573371
Molecular consequence:
  • NM_000018.4:c.881G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.2:c.815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.1:c.950G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.1:c.653G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238639GeneDxcriteria provided, single submitter
Pathogenic
(Jul 10, 2014)
germlineclinical testing

Citation Link,

SCV000884957ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Oct 12, 2017)
germlineclinical testing

Citation Link,

SCV001246298CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(May 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000238639.10

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

Description

The G294E missense mutation identified in the ACADVL gene has been reported previously in association with very long chain acyl-CoA dehydrogenase (VLCAD) deficiency (Andresen et al., 1996). The variant is found in UCD-MET panel(s).

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000884957.1

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

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001246298.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 10, 2021

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