NM_000436.4(OXCT1):c.79-11del AND Succinyl-CoA acetoacetate transferase deficiency

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Uncertain significance(1) (Last evaluated: Jun 28, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000342189.3

Allele description [Variation Report for NM_000436.4(OXCT1):c.79-11del]

NM_000436.4(OXCT1):c.79-11del

Gene:
OXCT1:3-oxoacid CoA-transferase 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5p13.1
Genomic location:
Preferred name:
NM_000436.4(OXCT1):c.79-11del
HGVS:
  • NC_000005.10:g.41862772del
  • NG_011823.1:g.12929del
  • NM_000436.4:c.79-11delMANE SELECT
  • NM_001364299.2:c.79-11del
  • NM_001364300.2:c.100-11del
  • NM_001364301.2:c.79-11del
  • NM_001364302.2:c.79-11del
  • NC_000005.9:g.41862874del
  • NC_000005.9:g.41862874delA
  • NM_000436.3:c.79-11delT
  • NM_000436.3:c.79-11delT
Links:
dbSNP: rs748715820
NCBI 1000 Genomes Browser:
rs748715820
Molecular consequence:
  • NM_000436.4:c.79-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364299.2:c.79-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364300.2:c.100-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364301.2:c.79-11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364302.2:c.79-11del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Succinyl-CoA acetoacetate transferase deficiency (SCOTD)
Synonyms:
SUCCINYL-CoA:3-KETOACID CoA-TRANSFERASE DEFICIENCY; Succinyl-CoA:3-oxoacid CoA transferase deficiency; 3-Oxoacid CoA Transferase Deficiency
Identifiers:
MONDO: MONDO:0009492; MedGen: C0342792; Orphanet: 832; OMIM: 245050

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000457640Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf,

Citation Link,

SCV000604583ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Jun 28, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000457640.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000604583.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 25, 2021

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