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NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) AND ACADM-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003430631.6

Allele description [Variation Report for NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)]

NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)

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.985A>G (p.Lys329Glu)
Other names:
K304E; 985A>G; c.985A>G (p.K304E); p.K329E:AAA>GAA; MC K329e
HGVS:
  • NC_000001.11:g.75761161A>G
  • NG_007045.2:g.41804A>G
  • NM_000016.6:c.985A>GMANE SELECT
  • NM_000016.6:c.985A>G
  • NM_001127328.2:c.997A>G
  • NM_001127328.3:c.997A>G
  • NM_001286042.2:c.877A>G
  • NM_001286043.2:c.1084A>G
  • NM_001286044.2:c.418A>G
  • NP_000007.1:p.Lys329Glu
  • NP_001120800.1:p.Lys333Glu
  • NP_001272971.1:p.Lys293Glu
  • NP_001272972.1:p.Lys362Glu
  • NP_001272972.1:p.Lys362Glu
  • NP_001272973.1:p.Lys140Glu
  • LRG_838t1:c.985A>G
  • LRG_838:g.41804A>G
  • LRG_838p1:p.Lys329Glu
  • NC_000001.10:g.76226846A>G
  • NC_000001.11:g.75761161A>G
  • NM_000016.4:c.985A>G
  • NM_000016.5:c.985A>G
  • NM_001127328.1:c.997A>G
  • NM_001286043.1:c.1084A>G
Protein change:
K140E; LYS304GLU
Links:
OMIM: 607008.0001; dbSNP: rs77931234
NCBI 1000 Genomes Browser:
rs77931234
Molecular consequence:
  • NM_000016.6:c.985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127328.3:c.997A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286042.2:c.877A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286043.2:c.1084A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286044.2:c.418A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ACADM-related disorder
Synonyms:
ACADM-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004118658PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Aug 15, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004118658.3

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

Description

The ACADM c.985A>G variant is predicted to result in the amino acid substitution p.Lys329Glu. This variant, also referred to in the literature as p.Lys304Glu, has been documented to be associated with autosomal recessive medium chain acyl-CoA dehydrogenase deficiency (MCADD) when present in the homozygous or compound heterozygous states (Matsubara et al. 1990. PubMed ID: 2393404). This is the most common pathogenic ACADM variant among patients of Northern European ancestry (Nichols et al. 2008. PubMed ID: 18241067). In summary, we interpret this variant as pathogenic. Of note, the c.985A>G (p.Lys329Glu) variant, in the heterozygous state without a second ACADM variant, has been reported to lead to false positive newborn screen results suggestive of MCADD (Merritt and Chang. 2019. PubMed ID: 20301597).

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

Last Updated: Nov 3, 2024