NM_000018.3(ACADVL):c.1096C>T (p.Arg366Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Mar 23, 2015)

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:
RCV000185719.2

Allele description [Variation Report for NM_000018.3(ACADVL):c.1096C>T (p.Arg366Cys)]

NM_000018.3(ACADVL):c.1096C>T (p.Arg366Cys)

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.1096C>T (p.Arg366Cys)
Other names:
p.R366C:CGT>TGT
HGVS:
  • NC_000017.11:g.7223151C>T
  • NG_007975.1:g.8318C>T
  • NM_000018.3:c.1096C>T
  • NM_001033859.2:c.1030C>T
  • NM_001270448.1:c.868C>T
  • NP_000009.1:p.Arg366Cys
  • NP_001029031.1:p.Arg344Cys
  • NP_001257377.1:p.Arg290Cys
  • NC_000017.10:g.7126470C>T
  • NM_000018.2:c.1096C>T
  • NM_001033859.1:c.1030C>T
  • P49748:p.Arg366Cys
Protein change:
R290C
Links:
UniProtKB: P49748#VAR_000349; dbSNP: rs771874163
NCBI 1000 Genomes Browser:
rs771874163
Molecular consequence:
  • NM_000018.3:c.1096C>T - 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
SCV000238644GeneDxcriteria provided, single submitter
Pathogenic
(Mar 23, 2015)
germlineclinical testing

Citation Link,

SCV000281260Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Pathogenic
(May 19, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000238644.11

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

Description

The R366C missense mutation identified in the ACADVL gene has been reported previously in association with VLCAD deficiency (Andresen et al., 1996). The variant is found in ACADVL panel(s).

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

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000281260.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.000208not providednot provided

Last Updated: Mar 30, 2019

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