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NM_014049.5(ACAD9):c.151-1_151del AND Acyl-CoA dehydrogenase 9 deficiency

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Jan 3, 2024
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:
RCV001275863.3

Allele description [Variation Report for NM_014049.5(ACAD9):c.151-1_151del]

NM_014049.5(ACAD9):c.151-1_151del

Gene:
ACAD9:acyl-CoA dehydrogenase family member 9 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_014049.5(ACAD9):c.151-1_151del
HGVS:
  • NC_000003.12:g.128884652_128884653del
  • NG_017064.1:g.10163_10164del
  • NM_014049.5:c.151-1_151delMANE SELECT
  • NC_000003.11:g.128603494_128603495del
  • NC_000003.11:g.128603495_128603496del
  • NM_014049.4:c.151-1_151del
  • NM_014049.4:c.151-1_151delGA
  • NM_014049.5:c.151-1_151delGAMANE SELECT
Links:
dbSNP: rs766026673
NCBI 1000 Genomes Browser:
rs766026673
Molecular consequence:
  • NM_014049.5:c.151-1_151del - 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
SCV001461495Natera, Inc.
no assertion criteria provided
Likely pathogenic
(Sep 16, 2020) 		germlineclinical testing

SCV004207030Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 3, 2024) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Natera, Inc., SCV001461495.1

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

From Baylor Genetics, SCV004207030.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 17, 2024