NM_000018.3(ACADVL):c.65C>A (p.Ser22Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 8, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000152732.3

Allele description [Variation Report for NM_000018.3(ACADVL):c.65C>A (p.Ser22Ter)]

NM_000018.3(ACADVL):c.65C>A (p.Ser22Ter)

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.65C>A (p.Ser22Ter)
HGVS:
  • NC_000017.11:g.7220124C>A
  • NG_007975.1:g.5291C>A
  • NM_000018.3:c.65C>A
  • NM_001270448.1:c.-164C>A
  • NP_000009.1:p.Ser22Ter
  • NC_000017.10:g.7123443C>A
  • NM_000018.2:c.65C>A
  • NP_000009.1:p.Ser22*
Protein change:
S22*
Links:
dbSNP: rs727503788
NCBI 1000 Genomes Browser:
rs727503788
Molecular consequence:
  • NM_001270448.1:c.-164C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000018.3:c.65C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000491231GeneDxcriteria provided, single submitter
Pathogenic
(Nov 8, 2016)
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, SCV000491231.1

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

Description

The S22X nonsense variant in the ACADVL gene has been reported previously in association with very long-chain acyl-CoA dehydrogenase deficiency (Watanabe et al., 2000). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.

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

Last Updated: Mar 30, 2019

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