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

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 2, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000523516.1

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

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

Genes:
LOC130060113:ATAC-STARR-seq lymphoblastoid silent region 8088 [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_001033859.3:c.138+2dup
  • NM_001270447.2:c.207+2dup
  • NM_001270448.2:c.-91+2dup
  • NC_000017.10:g.7123517_7123518insT
  • 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_001033859.3:c.138+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001270447.2:c.207+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001270448.2:c.-91+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000618411GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 2, 2017) 		germlineclinical testing

Citation Link

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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

Description

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.

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

Last Updated: Sep 29, 2024