NM_003501.3(ACOX3):c.491G>A (p.Gly164Asp) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 23, 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:: RCV004432852.1

Allele description [Variation Report for NM_003501.3(ACOX3):c.491G>A (p.Gly164Asp)]

NM_003501.3(ACOX3):c.491G>A (p.Gly164Asp)

Gene:

ACOX3:acyl-CoA oxidase 3, pristanoyl [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

Preferred name:

NM_003501.3(ACOX3):c.491G>A (p.Gly164Asp)

HGVS:

NC_000004.12:g.8414344C>T
NM_001101667.2:c.491G>A
NM_001375783.1:c.491G>A
NM_001375784.1:c.419G>A
NM_001375785.1:c.491G>A
NM_001375786.1:c.491G>A
NM_001375787.1:c.491G>A
NM_001375788.1:c.491G>A
NM_001375789.1:c.206G>A
NM_001375790.1:c.491G>A
NM_003501.3:c.491G>AMANE SELECT
NP_001095137.1:p.Gly164Asp
NP_001362712.1:p.Gly164Asp
NP_001362713.1:p.Gly140Asp
NP_001362714.1:p.Gly164Asp
NP_001362715.1:p.Gly164Asp
NP_001362716.1:p.Gly164Asp
NP_001362717.1:p.Gly164Asp
NP_001362718.1:p.Gly69Asp
NP_001362719.1:p.Gly164Asp
NP_003492.2:p.Gly164Asp
NC_000004.11:g.8416071C>T
NM_003501.2:c.491G>A

Protein change:

G140D

Molecular consequence:

NM_001101667.2:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375783.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375784.1:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375785.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375786.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375787.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375788.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375789.1:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001375790.1:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003501.3:c.491G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

MAG: ATP:cob(I)alamin adenosyltransferase [Candidatus Roizmanbacteria bacterium ...
MAG: ATP:cob(I)alamin adenosyltransferase [Candidatus Roizmanbacteria bacterium RIFOXYA1_FULL_37_12]
gi|1084059404|gb|OGK64358.1||gnl|WG F|A3K27_05435

Protein
Sorghum halepense photosystem II protein Z (psbZ) gene, partial cds; and psbZ-tr...
Sorghum halepense photosystem II protein Z (psbZ) gene, partial cds; and psbZ-trnG intergenic spacer, partial sequence; chloroplast
gi|281188301|gb|GQ121768.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004917538	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 23, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004917538

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 23, 2024)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV004917538.1

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

Description

The c.491G>A (p.G164D) alteration is located in exon 5 (coding exon 4) of the ACOX3 gene. This alteration results from a G to A substitution at nucleotide position 491, causing the glycine (G) at amino acid position 164 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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: May 7, 2024

ClinVar

Relating variation to medicine