NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys) AND not specified

Clinical significance:Benign/Likely benign (Last evaluated: Jan 30, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000077907.7

Allele description [Variation Report for NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys)]

NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys)

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.1600G>A (p.Glu534Lys)
Other names:
p.E534K:GAG>AAG; NM_000018.3(ACADVL):c.1600G>A(p.Glu534Lys); NM_001033859.2(ACADVL):c.1534G>A(p.Glu512Lys); NM_001270447.1(ACADVL):c.1669G>A(p.Glu557Lys); NM_001270448.1(ACADVL):c.1372G>A(p.Glu458Lys)
HGVS:
  • NC_000017.11:g.7224388G>A
  • NG_007975.1:g.9555G>A
  • NM_000018.3:c.1600G>A
  • NM_001270448.1:c.1372G>A
  • NP_000009.1:p.Glu534Lys
  • NP_001257377.1:p.Glu458Lys
  • NC_000017.10:g.7127707G>A
  • NM_000018.2:c.1600G>A
  • P49748:p.Glu534Lys
Protein change:
E458K
Links:
UniProtKB: P49748#VAR_010105; dbSNP: rs2230180
NCBI 1000 Genomes Browser:
rs2230180
Molecular consequence:
  • NM_000018.3:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000109736EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Feb 26, 2013)
germlineclinical testing

Citation Link,

SCV000238672GeneDxcriteria provided, single submitter
Benign
(Oct 10, 2016)
germlineclinical testing

Citation Link,

SCV000602373ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Jan 30, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown4not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000109736.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided4not providednot providednot provided

From GeneDx, SCV000238672.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000602373.1

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

Last Updated: Mar 30, 2019

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