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NM_014049.4(ACAD9):c.[1298G>A];[151-2A>G] AND Acyl-CoA dehydrogenase 9 deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 27, 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:
RCV000201557.4

Allele description [Variation Report for NM_014049.4(ACAD9):c.[1298G>A];[151-2A>G]]

NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln)

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.1298G>A (p.Arg433Gln)
HGVS:
  • NC_000003.12:g.128908204G>A
  • NG_017064.1:g.33715G>A
  • NM_014049.5:c.1298G>AMANE SELECT
  • NP_054768.2:p.Arg433Gln
  • NC_000003.11:g.128627047G>A
  • NM_014049.4:c.1298G>A
  • NR_033426.2:n.1546G>A
Protein change:
R433Q
Links:
dbSNP: rs781156571
NCBI 1000 Genomes Browser:
rs781156571
Molecular consequence:
  • NM_014049.5:c.1298G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033426.2:n.1546G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

NM_014049.5(ACAD9):c.151-2A>G

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.151-2A>G
HGVS:
  • NC_000003.12:g.128884651A>G
  • NG_017064.1:g.10162A>G
  • NM_001410805.1:c.-126+4810A>G
  • NM_014049.5:c.151-2A>GMANE SELECT
  • NC_000003.11:g.128603494A>G
  • NM_014049.4:c.151-2A>G
Links:
dbSNP: rs863225058
NCBI 1000 Genomes Browser:
rs863225058
Molecular consequence:
  • NM_001410805.1:c.-126+4810A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014049.5:c.151-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Acyl-CoA dehydrogenase 9 deficiency
Synonyms:
Acyl-CoA dehydrogenase family, member 9, deficiency of; 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
SCV000255970Institut IMAGINE, Institut National de la Sante et de la Recherche Medicale
no assertion criteria provided
Pathogenic
(Aug 27, 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, SCV000255970.2

#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
1germlineyes20not providednot provided1not provided1not provided

Last Updated: Sep 29, 2024