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NM_000016.6(ACADM):c.556_557del (p.Asn186fs) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 25, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002309990.2

Allele description [Variation Report for NM_000016.6(ACADM):c.556_557del (p.Asn186fs)]

NM_000016.6(ACADM):c.556_557del (p.Asn186fs)

Gene:
ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p31.1
Genomic location:
Preferred name:
NM_000016.6(ACADM):c.556_557del (p.Asn186fs)
HGVS:
  • NC_000001.11:g.75740067_75740068del
  • NG_007045.2:g.20710_20711del
  • NM_000016.6:c.556_557delMANE SELECT
  • NM_001127328.3:c.568_569del
  • NM_001286042.2:c.448_449del
  • NM_001286043.2:c.655_656del
  • NM_001286044.2:c.-12_-11del
  • NP_000007.1:p.Asn186Trpfs
  • NP_000007.1:p.Asn186fs
  • NP_001120800.1:p.Asn190fs
  • NP_001272971.1:p.Asn150fs
  • NP_001272972.1:p.Asn219fs
  • LRG_838t1:c.556_557del
  • LRG_838:g.20710_20711del
  • LRG_838p1:p.Asn186Trpfs
  • NC_000001.10:g.76205752_76205753del
  • NM_000016.5:c.556_557delAA
Protein change:
N150fs
Molecular consequence:
  • NM_001286044.2:c.-12_-11del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000016.6:c.556_557del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127328.3:c.568_569del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286042.2:c.448_449del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001286043.2:c.655_656del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Medium-chain acyl-coenzyme A dehydrogenase deficiency (ACADMD)
Synonyms:
CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency
Identifiers:
MONDO: MONDO:0008721; MedGen: C0220710; Orphanet: 42; OMIM: 201450

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002604240Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Feb 25, 2022) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002604240.2

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

Description

NM_000016.4(ACADM):c.556_557delAA(N186Wfs*13) is expected to be pathogenic in the context of medium chain acyl-CoA dehydrogenase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ACADM, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022