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NM_000531.6(OTC):c.663+1G>T AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 6, 2015
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:
RCV000083528.2

Allele description [Variation Report for NM_000531.6(OTC):c.663+1G>T]

NM_000531.6(OTC):c.663+1G>T

Gene:
OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.6(OTC):c.663+1G>T
HGVS:
  • NC_000023.11:g.38403741G>T
  • NG_008471.1:g.56259G>T
  • NM_000531.6:c.663+1G>TMANE SELECT
  • NM_001407092.1:c.663+1G>T
  • LRG_846t1:c.663+1G>T
  • LRG_846:g.56259G>T
  • NC_000023.10:g.38262994G>T
  • NM_000531.5:c.663+1G>T
Links:
dbSNP: rs68170503
NCBI 1000 Genomes Browser:
rs68170503
Molecular consequence:
  • NM_000531.6:c.663+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407092.1:c.663+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000115614GenMed Metabolism Lab
no assertion criteria provided
pathogenicunknownnot provided

PubMed (1)
[See all records that cite this PMID]

SCV000516805GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 6, 2015) 		germlineclinical testing

Citation Link

Description

Female, Donor splice site error

SCV000115614

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Identification of four novel splice site mutations in the ornithine transcarbamylase gene.

Oppliger Leibundgut E, Wermuth B, Colombo JP, Liechti-Gallati S.

Hum Genet. 1996 Feb;97(2):209-13.

PubMed [citation]
PMID:
8566955

Details of each submission

From GenMed Metabolism Lab, SCV000115614.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot provided1not providednot providednot providednot providednot providednot provided

From GeneDx, SCV000516805.4

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

Description

The c.663+1 G>T splice site variant in the OTC gene has been previously reported in association with ornithine transcarbamylase (Oppliger Leibundgut et al., 1996). This variant destroys the canonical splice donor site in intron 6, and is expected to cause abnormal gene splicing. Therefore, we interpret this variant as pathogenic.

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

Last Updated: Sep 29, 2024