NM_000018.4(ACADVL):c.138+2dup AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Nov 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000666464.3

Allele description [Variation Report for NM_000018.4(ACADVL):c.138+2dup]

NM_000018.4(ACADVL):c.138+2dup

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.4(ACADVL):c.138+2dup
HGVS:
  • NC_000017.11:g.7220199dup
  • NG_007975.1:g.5366dup
  • NG_008391.2:g.4852dup
  • NM_000018.4:c.138+2dupMANE SELECT
  • NM_001033859.2:c.138+2dup
  • NM_001270447.1:c.207+2dup
  • NM_001270448.1:c.-91+2dup
  • NC_000017.10:g.7123518dup
  • NM_000018.2:c.138+2dupT
  • NM_000018.3:c.138+2dupT
  • NM_000018.4:c.138+2dupTMANE SELECT
Links:
dbSNP: rs1555527548
NCBI 1000 Genomes Browser:
rs1555527548
Molecular consequence:
  • NM_000018.4:c.138+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001033859.2:c.138+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001270447.1:c.207+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001270448.1:c.-91+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
Synonyms:
VLCAD deficiency
Identifiers:
MONDO: MONDO:0008723; MedGen: C3887523; Orphanet: 26793; OMIM: 201475

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000790761Counsylcriteria provided, single submitter
Uncertain significance
(Apr 24, 2017)
unknownclinical testing

Citation Link,

SCV001364949Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicinecriteria provided, single submitter
Pathogenic
(Nov 1, 2019)
germlineclinical testing

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

SCV001455120Natera, Inc.no assertion criteria providedLikely pathogenic
(Sep 16, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot 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 Counsyl, SCV000790761.1

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

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV001364949.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The NM_000018.3:c.138+2dupT (NP_000009.1:p.?) [GRCH38: NC_000017.11:g.7220199dupT] variant in ACADVL gene is interpretated to be Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has been reported. This variant meets the following evidence codes reported in the ACMG guidelines: PVS1, PS3

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

From Natera, Inc., SCV001455120.1

#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: Aug 27, 2021

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