NM_014049.5(ACAD9):c.497_501del (p.Tyr165_Leu166insTer) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 13, 2021
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:: RCV002047607.4

Allele description [Variation Report for NM_014049.5(ACAD9):c.497_501del (p.Tyr165_Leu166insTer)]

NM_014049.5(ACAD9):c.497_501del (p.Tyr165_Leu166insTer)

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.497_501del (p.Tyr165_Leu166insTer)

HGVS:

NC_000003.12:g.128896479_128896483del
NG_017064.1:g.21990_21994del
NM_014049.5:c.497_501delMANE SELECT
NP_054768.2:p.Tyr165_Leu166insTer
NC_000003.11:g.128615320_128615324del
NC_000003.11:g.128615322_128615326del
NR_033426.2:n.745_749del

Links:

dbSNP: rs2107651275

NCBI 1000 Genomes Browser:

rs2107651275

Molecular consequence:

NR_033426.2:n.745_749del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_014049.5:c.497_501del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002108580	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 13, 2021)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25721401, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002108580

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 13, 2021)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Häberle J, Munnich A, Rötig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J.

Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26.

PubMed [citation]

PMID:: 25721401
PMCID:: PMC4424958

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002108580.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu166*) in the ACAD9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ACAD9 are known to be pathogenic (PMID: 25721401). This variant has not been reported in the literature in individuals affected with ACAD9-related conditions. For these reasons, this variant has been classified as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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