NM_000018.3(ACADVL):c.65C>A (p.Ser22Ter) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Pathogenic (Last evaluated: Mar 20, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000175507.2

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]
Observations:
6

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000226996EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Mar 20, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown6not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000226996.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided6not providednot providednot provided

Last Updated: Mar 30, 2019

Support Center