NM_000016.5(ACADM):c.387+1del AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Pathogenic(1);Uncertain significance(1) (Last evaluated: Oct 10, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000383616.2

Allele description [Variation Report for NM_000016.5(ACADM):c.387+1del]

NM_000016.5(ACADM):c.387+1del

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.5(ACADM):c.387+1del
HGVS:
  • NC_000001.10:g.76199310del
  • NC_000001.11:g.75733629del
  • NG_007045.2:g.14272del
  • NM_000016.5:c.387+1del
  • NM_000016.5:c.387del
  • NM_001127328.2:c.399+1del
  • NM_001286042.1:c.279+1del
  • NM_001286043.1:c.486+1del
  • NM_001286044.1:c.-100+707del
  • LRG_838t1:c.387+1del
  • LRG_838:g.14272del
  • NC_000001.10:g.76199310del
  • NC_000001.10:g.76199314del
  • NC_000001.10:g.76199314delG
  • NM_000016.4:c.387+1delG
  • NM_000016.4:c.387+1delG
  • NM_000016.5:c.387+1del
  • NM_000016.5:c.387+1delG
  • NM_000016.5:c.387del
Links:
dbSNP: rs786204424
NCBI 1000 Genomes Browser:
rs786204424
Molecular consequence:
  • NM_001286044.1:c.-100+707del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000016.5:c.387+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001127328.2:c.399+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001286042.1:c.279+1del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001286043.1:c.486+1del - splice donor variant - [Sequence Ontology: SO:0001575]
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
SCV000331022EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Oct 1, 2015)
germlineclinical testing

Citation Link,

SCV001133287Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Pathogenic
(Oct 10, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.

Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B.

Mol Genet Metab. 2006 Jan;87(1):32-9. Epub 2005 Nov 15.

PubMed [citation]
PMID:
16291504

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Rhead WJ.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):370-7. Review.

PubMed [citation]
PMID:
16763904
See all PubMed Citations (3)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000331022.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001133287.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

The variant results in a shift of the reading frame, and is therefore predicted to significantly disrupt the protein structure. Found in at least one symptomatic patient, and not found in general population data.

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

Last Updated: Jun 14, 2021

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