NM_000018.3(ACADVL):c.644_647delGTCT (p.Cys215Terfs) AND Very long chain acyl-CoA dehydrogenase deficiency

Clinical significance:Likely pathogenic (Last evaluated: Mar 30, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000410797.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.644_647delGTCT (p.Cys215Terfs)]

NM_000018.3(ACADVL):c.644_647delGTCT (p.Cys215Terfs)

Gene:
ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000018.3(ACADVL):c.644_647delGTCT (p.Cys215Terfs)
HGVS:
  • NC_000017.11:g.7221973_7221976delGTCT
  • NM_000018.3:c.644_647delGTCT
  • NP_000009.1:p.Cys215Terfs
  • NC_000017.10:g.7125292_7125295delGTCT
Links:
dbSNP: rs1057516714
NCBI 1000 Genomes Browser:
rs1057516714
Molecular consequence:
  • NM_000018.3:c.644_647delGTCT - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000486099Counsylcriteria provided, single submitter
Likely pathogenic
(Mar 30, 2016)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N.

Am J Hum Genet. 1999 Feb;64(2):479-94.

PubMed [citation]
PMID:
9973285
PMCID:
PMC1377757

DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Olpin S, Kvittingen EA, Augoustides-Savvopoulou P, Lindhout D, Halley DJ, Vianey-Saban C, Wanders RJ, Ijlst L, Schroeder LD, Bolund L, Gregersen N.

J Inherit Metab Dis. 1999 May;22(3):281-5. No abstract available.

PubMed [citation]
PMID:
10384387

Details of each submission

From Counsyl, SCV000486099.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

Support Center