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NM_000531.6(OTC):c.718-2_731del 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:
RCV000083550.1

Allele description [Variation Report for NM_000531.6(OTC):c.718-2_731del]

NM_000531.6(OTC):c.718-2_731del

Gene:
OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.6(OTC):c.718-2_731del
HGVS:
  • NC_000023.11:g.38408874_38408889del
  • NG_008471.1:g.61392_61407del
  • NM_000531.6:c.718-2_731delMANE SELECT
  • LRG_846t1:c.718-2_731del
  • LRG_846:g.61392_61407del
  • NC_000023.10:g.38268127_38268142del
  • NM_000531.5:c.718-4_729delCTAGAATGGTACCAAG
Links:
dbSNP: rs72558434
NCBI 1000 Genomes Browser:
rs72558434
Molecular consequence:
  • NM_000531.6:c.718-2_731del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000115636GenMed Metabolism Lab
no assertion criteria provided
pathogenicunknownnot provided

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

Description

Female, Eliminates an acceptor splice site

SCV000115636

Help

Summary from all submissions

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

Citations

PubMed

Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.

Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M.

Hum Mutat. 2006 Jul;27(7):626-32.

PubMed [citation]
PMID:
16786505

Details of each submission

From GenMed Metabolism Lab, SCV000115636.1

#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