NM_000018.3(ACADVL):c.947G>A (p.Arg316Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 5, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000755205.2

Allele description [Variation Report for NM_000018.3(ACADVL):c.947G>A (p.Arg316Gln)]

NM_000018.3(ACADVL):c.947G>A (p.Arg316Gln)

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.947G>A (p.Arg316Gln)
Other names:
p.R316Q:CGG>CAG
HGVS:
  • NC_000017.11:g.7222735G>A
  • NG_007975.1:g.7902G>A
  • NM_000018.2:c.947G>A
  • NM_000018.3:c.947G>A
  • NM_001270448.1:c.719G>A
  • NP_000009.1:p.Arg316Gln
  • NP_001257377.1:p.Arg240Gln
  • NC_000017.10:g.7126054G>A
Protein change:
R240Q
Links:
dbSNP: rs147366714
NCBI 1000 Genomes Browser:
rs147366714
Molecular consequence:
  • NM_000018.3:c.947G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000238641GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 21, 2016)
germlineclinical testing

Citation Link,

SCV000602362ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Oct 5, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000238641.10

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

Description

The R316Q variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The R316Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000602362.2

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

Last Updated: Apr 17, 2019

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