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NM_000016.6(ACADM):c.949C>T (p.Gln317Ter) AND Medium-chain acyl-coenzyme A dehydrogenase deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 25, 2016
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:
RCV000412345.2

Allele description [Variation Report for NM_000016.6(ACADM):c.949C>T (p.Gln317Ter)]

NM_000016.6(ACADM):c.949C>T (p.Gln317Ter)

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.949C>T (p.Gln317Ter)
HGVS:
  • NC_000001.11:g.75761125C>T
  • NG_007045.2:g.41768C>T
  • NM_000016.6:c.949C>TMANE SELECT
  • NM_001127328.3:c.961C>T
  • NM_001286042.2:c.841C>T
  • NM_001286043.2:c.1048C>T
  • NM_001286044.2:c.382C>T
  • NP_000007.1:p.Gln317Ter
  • NP_001120800.1:p.Gln321Ter
  • NP_001272971.1:p.Gln281Ter
  • NP_001272972.1:p.Gln350Ter
  • NP_001272973.1:p.Gln128Ter
  • LRG_838:g.41768C>T
  • NC_000001.10:g.76226810C>T
  • NM_000016.4:c.949C>T
Protein change:
Q128*
Links:
dbSNP: rs1057516564
NCBI 1000 Genomes Browser:
rs1057516564
Molecular consequence:
  • NM_000016.6:c.949C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127328.3:c.961C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286042.2:c.841C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286043.2:c.1048C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001286044.2:c.382C>T - nonsense - [Sequence Ontology: SO:0001587]

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000485877Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Feb 25, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000485877.2

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

Last Updated: Dec 24, 2022