NM_000018.3(ACADVL):c.[194C>T;739A>C] AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Pathogenic (Last evaluated: Jan 1, 2000)

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:
RCV000001698.4

Alleles description [Variation Report for NM_000018.3(ACADVL):c.[194C>T;739A>C]]

NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu)

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.194C>T (p.Pro65Leu)
Other names:
p.P65L:CCG>CTG
HGVS:
  • NC_000017.11:g.7220519C>T
  • NG_007975.1:g.5686C>T
  • NM_000018.3:c.194C>T
  • NM_001033859.2:c.139-85C>T
  • NM_001270448.1:c.-35C>T
  • NP_000009.1:p.Pro65Leu
  • NC_000017.10:g.7123838C>T
  • NM_000018.2:c.194C>T
  • P49748:p.Pro65Leu
Protein change:
P65L; PRO65LEU
Links:
UniProtKB: P49748#VAR_048176; OMIM: 609575.0011; dbSNP: rs28934585
NCBI 1000 Genomes Browser:
rs28934585
Molecular consequence:
  • NM_001270448.1:c.-35C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001033859.2:c.139-85C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000018.3:c.194C>T - missense variant - [Sequence Ontology: SO:0001583]

NM_000018.3(ACADVL):c.739A>C (p.Lys247Gln)

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.739A>C (p.Lys247Gln)
HGVS:
  • NC_000017.11:g.7222068A>C
  • NG_007975.1:g.7235A>C
  • NM_000018.3:c.739A>C
  • NP_000009.1:p.Lys247Gln
  • NC_000017.10:g.7125387A>C
Protein change:
K247Q; LYS247GLN
Links:
OMIM: 609575.0011; dbSNP: rs387906253
NCBI 1000 Genomes Browser:
rs387906253
Molecular consequence:
  • NM_000018.3:c.739A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000021854OMIMno assertion criteria providedPathogenic
(Jan 1, 2000)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Details of each submission

From OMIM, SCV000021854.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an Israeli patient with VLCAD deficiency (201475), Watanabe et al. (2000) found homozygosity for a complex mutant allele with pro65-to-leu (P65L) and lys247-to-gln (K247Q) mutations in the ACADVL gene. The K247Q mutation resulted from a 937A-C transversion. The P65L mutation resulted in the skipping of exon 3. The nucleotide substitution causing the P65L amino acid change was a 194C-T transition located 11 bases upstream of the normal splice donor site of intron 3. This is an example of an exonic mutation that affects exon splicing; a similar situation had been described in the ACAT1 gene (see 203750.0009). RT-PCR showed 2 cDNA fragments of different sizes. One had the expected size and the other was shorter by 66 basepairs. In the case of P65L, the amino acid change did not reduce enzyme activity, whereas the K247Q mutation reduced it drastically.

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

Last Updated: Mar 30, 2019

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