NM_000018.3(ACADVL):c.298_299delCA (p.Gln100Valfs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 8, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000724267.1

Allele description [Variation Report for NM_000018.3(ACADVL):c.298_299delCA (p.Gln100Valfs)]

NM_000018.3(ACADVL):c.298_299delCA (p.Gln100Valfs)

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.298_299delCA (p.Gln100Valfs)
HGVS:
  • NC_000017.11:g.7220786_7220787delCA
  • NM_000018.3:c.298_299delCA
  • NP_000009.1:p.Gln100Valfs
  • NC_000017.10:g.7124105_7124106delCA
Links:
dbSNP: rs786204713
NCBI 1000 Genomes Browser:
rs786204713
Molecular consequence:
  • NM_000018.3:c.298_299delCA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000230829EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Sep 8, 2014)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000230829.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 30, 2019

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