NM_003501.3(ACOX3):c.872A>C (p.Lys291Thr) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 17, 2023
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:: RCV004432898.1

Allele description [Variation Report for NM_003501.3(ACOX3):c.872A>C (p.Lys291Thr)]

NM_003501.3(ACOX3):c.872A>C (p.Lys291Thr)

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.872A>C (p.Lys291Thr)

HGVS:

NC_000004.12:g.8399557T>G
NM_001101667.2:c.872A>C
NM_001375783.1:c.872A>C
NM_001375784.1:c.800A>C
NM_001375785.1:c.872A>C
NM_001375786.1:c.872A>C
NM_001375787.1:c.872A>C
NM_001375788.1:c.872A>C
NM_001375789.1:c.587A>C
NM_001375790.1:c.872A>C
NM_003501.3:c.872A>CMANE SELECT
NP_001095137.1:p.Lys291Thr
NP_001362712.1:p.Lys291Thr
NP_001362713.1:p.Lys267Thr
NP_001362714.1:p.Lys291Thr
NP_001362715.1:p.Lys291Thr
NP_001362716.1:p.Lys291Thr
NP_001362717.1:p.Lys291Thr
NP_001362718.1:p.Lys196Thr
NP_001362719.1:p.Lys291Thr
NP_003492.2:p.Lys291Thr
NC_000004.11:g.8401284T>G
NM_003501.2:c.872A>C

Protein change:

K196T

Molecular consequence:

NM_001101667.2:c.872A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375783.1:c.872A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375784.1:c.800A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375785.1:c.872A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375786.1:c.872A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375787.1:c.872A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375788.1:c.872A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375789.1:c.587A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001375790.1:c.872A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003501.3:c.872A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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hypothetical protein vBEnt31_000288 [Enterobacter phage vB_Ent31]
hypothetical protein vBEnt31_000288 [Enterobacter phage vB_Ent31]
gi|2594431885|gb|WOF01417.1|

Protein
Uncultured bacterium SCALE-10 16S ribosomal RNA gene, partial sequence
Uncultured bacterium SCALE-10 16S ribosomal RNA gene, partial sequence
gi|5051705|gb|AF146262.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004918814	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Oct 17, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004918814

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Oct 17, 2023)

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, SCV004918814.1

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

Description

The c.872A>C (p.K291T) alteration is located in exon 8 (coding exon 7) of the ACOX3 gene. This alteration results from a A to C substitution at nucleotide position 872, causing the lysine (K) at amino acid position 291 to be replaced by a threonine (T). 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

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