NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser) AND Acyl-CoA oxidase deficiency

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 4, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002249428.2

Allele description [Variation Report for NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)]

NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)

Gene:

ACOX1:acyl-CoA oxidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

Preferred name:

NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)

HGVS:

NC_000017.11:g.75955630T>C
NG_008190.1:g.28734A>G
NM_001185039.2:c.596A>G
NM_004035.7:c.710A>GMANE SELECT
NM_007292.6:c.710A>G
NP_001171968.1:p.Asn199Ser
NP_004026.2:p.Asn237Ser
NP_009223.2:p.Asn237Ser
NC_000017.10:g.73951711T>C
NM_004035.5:c.710A>G
NM_004035.6:c.710A>G
p.N237S

Protein change:

N199S; ASN237SER

Links:

OMIM: 609751.0008; dbSNP: rs1567876984

NCBI 1000 Genomes Browser:

rs1567876984

Molecular consequence:

NM_001185039.2:c.596A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_004035.7:c.710A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007292.6:c.710A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Acyl-CoA oxidase deficiency
Synonyms:: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY; Pseudoneonatal adrenoleukodystrophy; Peroxisomal acyl-CoA oxidase deficiency
Identifiers:: MONDO: MONDO:0009919; MedGen: C1849678; Orphanet: 2971; OMIM: 264470

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002517508	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link,
SCV003835120	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 4, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002517508

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

Citation Link,

SCV003835120

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 4, 2021)

unknown

clinical testing

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

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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Mendelics, SCV002517508.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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

From Baylor Genetics, SCV003835120.1

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

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

Last Updated: May 16, 2025

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