NM_000531.5(OTC):c.-106C>A AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 18, 2018
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:: RCV000757584.15

Allele description [Variation Report for NM_000531.5(OTC):c.-106C>A]

NM_000531.5(OTC):c.-106C>A

Gene:

OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.4

Genomic location:

Preferred name:

NM_000531.5(OTC):c.-106C>A

HGVS:

NC_000023.11:g.38352591C>A
NG_008471.1:g.5109C>A
NM_000531.5:c.-106C>A
NM_001407092.1:c.-79-27C>A
LRG_846:g.5109C>A
NC_000023.10:g.38211844C>A

Links:

dbSNP: rs749748052

NCBI 1000 Genomes Browser:

rs749748052

Molecular consequence:

NM_001407092.1:c.-79-27C>A - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

decreased transcript level variant [Sequence Ontology: SO:0001541]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000885873	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Uncertain significance (Apr 18, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000885873

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Uncertain significance
(Apr 18, 2018)

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885873.1

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

Description

The OTC c.-106C>A variant (rs749748052) occurs at a weakly conserved nucleotide located in the 5' untranslated region of the OTC gene. It has been described in individuals affected with late-onset OTC deficiency, but did not segregate with disease in one family (Jang 2018). It is reported in the 1000 Genome project with an overall allele frequency of 0.026% (1/3775 alleles). In vitro functional studies of the variant protein demonstrates reduced expression, but limited information is available regarding the experimental design of this single assay (Jang 2018). Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. REFERENCES Jang Y et al. Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene. Hum Mutat. 2018 Apr;39(4):527-536.

#	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: Apr 20, 2024

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