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NM_014049.4(ACAD9):c.[1237G>A];[1552C>T] AND Acyl-CoA dehydrogenase family, member 9, deficiency of

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 28, 2015
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:
RCV000201643.1

Allele description

NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)

Gene:
ACAD9:acyl-CoA dehydrogenase family member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
HGVS:
  • NC_000003.12:g.128909410C>T
  • NG_017064.1:g.34921C>T
  • NM_014049.5:c.1552C>TMANE SELECT
  • NP_054768.2:p.Arg518Cys
  • NC_000003.11:g.128628253C>T
  • NM_014049.4:c.1552C>T
  • NR_033426.1:n.1930C>T
Protein change:
R518C
Links:
dbSNP: rs150283105
NCBI 1000 Genomes Browser:
rs150283105
Molecular consequence:
  • NM_014049.5:c.1552C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033426.1:n.1930C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)

Gene:
ACAD9:acyl-CoA dehydrogenase family member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_014049.5(ACAD9):c.1237G>A (p.Glu413Lys)
HGVS:
  • NC_000003.12:g.128906208G>A
  • NG_017064.1:g.31719G>A
  • NM_014049.5:c.1237G>AMANE SELECT
  • NP_054768.2:p.Glu413Lys
  • NC_000003.11:g.128625051G>A
  • NM_014049.4:c.1237G>A
  • NR_033426.1:n.1615G>A
  • Q9H845:p.Glu413Lys
Protein change:
E413K
Links:
UniProtKB: Q9H845#VAR_071900; dbSNP: rs149753643
NCBI 1000 Genomes Browser:
rs149753643
Molecular consequence:
  • NM_014049.5:c.1237G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033426.1:n.1615G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Acyl-CoA dehydrogenase family, member 9, deficiency of (MC1DN20)
Synonyms:
MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
Identifiers:
MONDO: MONDO:0012624; MedGen: C4747517; Orphanet: 99901; OMIM: 611126

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255971Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale
no assertion criteria provided
Pathogenic
(Aug 28, 2015) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not provided40yesclinical testing

Details of each submission

From Institut IMAGINE,Institut National de la Sante et de la Recherche Medicale, SCV000255971.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providedyesclinical testingnot provided

Description

predicted to be deleterious using three different prediction softwares, namely SIFT, MutationTaster and Polyphen-2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes20Leucocytesnot provided1not provided1not provided

Last Updated: Sep 23, 2021