NM_000018.4(ACADVL):c.138+2dup AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

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


ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
  • 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
dbSNP: rs1555527548
NCBI 1000 Genomes Browser:
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]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000618411GeneDxcriteria provided, single submitter
Likely pathogenic
(May 2, 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, SCV000618411.1

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


The c.138+2dupT variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases. The c.138+2dupT splice site variant is expected to destroy the canonical splice donor site in intron 2. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. In summary, we interpret this variant as likely pathogenic.

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

Last Updated: Aug 27, 2021

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