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NM_000436.4(OXCT1):c.1299G>A (p.Ala433=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Aug 8, 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:
RCV003355805.2

Allele description [Variation Report for NM_000436.4(OXCT1):c.1299G>A (p.Ala433=)]

NM_000436.4(OXCT1):c.1299G>A (p.Ala433=)

Gene:
OXCT1:3-oxoacid CoA-transferase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.1
Genomic location:
Preferred name:
NM_000436.4(OXCT1):c.1299G>A (p.Ala433=)
HGVS:
  • NC_000005.10:g.41762150C>T
  • NG_011823.1:g.113540G>A
  • NM_000436.3:c.1299G>A
  • NM_000436.4:c.1299G>AMANE SELECT
  • NM_001364299.2:c.1320G>A
  • NM_001364300.2:c.1320G>A
  • NM_001364301.2:c.1293G>A
  • NM_001364302.2:c.1249-12543G>A
  • NM_001364303.2:c.741G>A
  • NP_000427.1:p.Ala433=
  • NP_001351228.1:p.Ala440=
  • NP_001351229.1:p.Ala440=
  • NP_001351230.1:p.Ala431=
  • NP_001351232.1:p.Ala247=
  • NC_000005.9:g.41762252C>T
  • NR_157114.2:n.1293G>A
Links:
dbSNP: rs758849678
NCBI 1000 Genomes Browser:
rs758849678
Molecular consequence:
  • NM_001364302.2:c.1249-12543G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_157114.2:n.1293G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000436.4:c.1299G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001364299.2:c.1320G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001364300.2:c.1320G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001364301.2:c.1293G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001364303.2:c.741G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004076036Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Aug 8, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004076036.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2024