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NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs) AND Ornithine carbamoyltransferase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 29, 2019
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:
RCV001240275.3

Allele description

NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs)

Gene:
OTC:ornithine transcarbamylase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
Xp11.4
Genomic location:
Preferred name:
NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs)
HGVS:
  • NC_000023.11:g.38408938_38408939delinsG
  • NG_008471.1:g.61456_61457delinsG
  • NM_000531.6:c.780_781delinsGMANE SELECT
  • NP_000522.3:p.Ile261fs
  • LRG_846t1:c.780_781delinsG
  • LRG_846:g.61456_61457delinsG
  • LRG_846p1:p.Ile261fs
  • NC_000023.10:g.38268191_38268192delinsG
  • NC_000023.10:g.38268191_38268192delinsG
  • NM_000531.5:c.780_781delinsG
Protein change:
I261fs
Links:
dbSNP: rs2068529696
NCBI 1000 Genomes Browser:
rs2068529696
Molecular consequence:
  • NM_000531.6:c.780_781delinsG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Ornithine carbamoyltransferase deficiency (OTCD)
Synonyms:
ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO; Ornithine transcarbamylase deficiency; OTC deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010703; MedGen: C0268542; Orphanet: 664; OMIM: 311250

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001413206Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Sep 29, 2019) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.

McCullough BA, Yudkoff M, Batshaw ML, Wilson JM, Raper SE, Tuchman M.

Am J Med Genet. 2000 Aug 14;93(4):313-9.

PubMed [citation]
PMID:
10946359

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
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001413206.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in OTC are known to be pathogenic (PMID: 10946359, 16786505). This variant has not been reported in the literature in individuals with OTC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile261Leufs*6) in the OTC gene. It is expected to result in an absent or disrupted protein product.

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

Last Updated: Feb 20, 2024