NM_000018.3(ACADVL):c.1284G>A (p.Lys428=) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Benign (Last evaluated: Sep 22, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000020070.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.1284G>A (p.Lys428=)]

NM_000018.3(ACADVL):c.1284G>A (p.Lys428=)

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.1284G>A (p.Lys428=)
HGVS:
  • NC_000017.11:g.7223827G>A
  • NG_007975.1:g.8994G>A
  • NM_000018.3:c.1284G>A
  • NP_000009.1:p.Lys428=
  • NC_000017.10:g.7127146G>A
  • NM_000018.2:c.1284G>A
Links:
dbSNP: rs35501596
NCBI 1000 Genomes Browser:
rs35501596
Molecular consequence:
  • NM_000018.3:c.1284G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040368GeneReviewsno assertion criteria providedbenign
(Sep 22, 2011)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000040368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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