NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000432899.2

Allele description [Variation Report for NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)]

NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe)
HGVS:
  • NC_000001.11:g.75732886C>T
  • NG_007045.2:g.13529C>T
  • NM_000016.5:c.250C>T
  • NM_000016.6:c.250C>TMANE SELECT
  • NM_001127328.3:c.262C>T
  • NM_001286042.2:c.142C>T
  • NM_001286043.2:c.250C>T
  • NM_001286044.2:c.-136C>T
  • NP_000007.1:p.Leu84Phe
  • NP_000007.1:p.Leu84Phe
  • NP_001120800.1:p.Leu88Phe
  • NP_001272971.1:p.Leu48Phe
  • NP_001272972.1:p.Leu84Phe
  • LRG_838t1:c.250C>T
  • LRG_838:g.13529C>T
  • LRG_838p1:p.Leu84Phe
  • NC_000001.10:g.76198571C>T
  • NM_000016.4:c.250C>T
Protein change:
L48F
Links:
dbSNP: rs762114560
NCBI 1000 Genomes Browser:
rs762114560
Molecular consequence:
  • NM_001286044.2:c.-136C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000016.5:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000016.6:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127328.3:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286042.2:c.142C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286043.2:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000511929GeneDxcriteria provided, single submitter
Pathogenic
(Oct 12, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000511929.3

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

Description

The L84F variant has been reported previously in trans with K329E in an individual with a severe medium chain acyl-CoA dehydrogenase (MCAD) deficiency phenotype (Smith et al., 2010). This variant has also been observed in two individuals with positive newborn screening and biochemical testing suggestive of MCAD deficiency who were also heterozygous for another variant in ACADM (Waddell et al., 2006; Touw et al. 2012). The L84F variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L84F variant occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. In summary, we interpret L84F to be a pathogenic variant.

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

Last Updated: Nov 10, 2021

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