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NM_000531.6(OTC):c.298+1_298+5del AND not provided

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000083394.1

Allele description [Variation Report for NM_000531.6(OTC):c.298+1_298+5del]

NM_000531.6(OTC):c.298+1_298+5del

Gene:
OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.6(OTC):c.298+1_298+5del
HGVS:
  • NC_000023.11:g.38369878_38369882del
  • NG_008471.1:g.22396_22400del
  • NM_000531.6:c.298+1_298+5delMANE SELECT
  • LRG_846t1:c.298+1_298+5del
  • LRG_846:g.22396_22400del
  • NC_000023.10:g.38229131_38229135del
  • NM_000531.5:c.298+1_298+5delGTAAG
Links:
dbSNP: rs111060773
NCBI 1000 Genomes Browser:
rs111060773
Molecular consequence:
  • NM_000531.6:c.298+1_298+5del - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000115480GenMed Metabolism Lab
no assertion criteria provided
pathogenicunknownnot provided

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

Description

Female, Donor splice site error

SCV000115480

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.

Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM.

J Inherit Metab Dis. 1997 Aug;20(4):525-7.

PubMed [citation]
PMID:
9266388

Details of each submission

From GenMed Metabolism Lab, SCV000115480.1

#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

Last Updated: Mar 26, 2023