NM_014049.4(ACAD9):c.*231_*232delGA AND Acyl-CoA dehydrogenase family, member 9, deficiency of

Clinical significance:Likely benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000393252.1

Allele description [Variation Report for NM_014049.4(ACAD9):c.*231_*232delGA]

NM_014049.4(ACAD9):c.*231_*232delGA

Genes:
KIAA1257:KIAA1257 [Gene - HGNC]
ACAD9:acyl-CoA dehydrogenase family member 9 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_014049.4(ACAD9):c.*231_*232delGA
HGVS:
  • NC_000003.12:g.128912838_128912839delGA
  • NM_014049.4:c.*231_*232delGA
  • NC_000003.11:g.128631681_128631682delGA
Links:
dbSNP: rs146518015
NCBI 1000 Genomes Browser:
rs146518015
Molecular consequence:
  • NM_014049.4:c.*231_*232delGA - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

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:
MedGen: C1970173; Orphanet: 99901; OMIM: 611126

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000440781Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000440781.2

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

Last Updated: Mar 30, 2019

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