NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: May 27, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000152735.8

Allele description [Variation Report for NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)]

NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)

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_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
Other names:
p.A180T:GCC>ACC
HGVS:
  • NC_000017.11:g.7221598G>A
  • NG_007975.1:g.6765G>A
  • NG_008391.2:g.3453C>T
  • NM_000018.4:c.538G>AMANE SELECT
  • NM_001033859.3:c.472G>A
  • NM_001270447.2:c.607G>A
  • NM_001270448.1:c.310G>A
  • NM_001270448.2:c.310G>A
  • NP_000009.1:p.Ala180Thr
  • NP_001029031.1:p.Ala158Thr
  • NP_001257376.1:p.Ala203Thr
  • NP_001257377.1:p.Ala104Thr
  • NP_001257377.1:p.Ala104Thr
  • NC_000017.10:g.7124917G>A
  • NM_000018.2:c.538G>A
  • NM_000018.3:c.538G>A
  • NM_001033859.1:c.472G>A
Protein change:
A104T
Links:
dbSNP: rs727503791
NCBI 1000 Genomes Browser:
rs727503791
Molecular consequence:
  • NM_000018.4:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001033859.3:c.472G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270447.2:c.607G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.1:c.310G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270448.2:c.310G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000202122EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jun 23, 2017)
germlineclinical testing

Citation Link,

SCV000238635GeneDxcriteria provided, single submitter
Pathogenic
(May 27, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown3not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000202122.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV000238635.13

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32798077, 26385305, 29268767, 30194637)

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

Last Updated: Nov 27, 2021

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