NM_000531.6(OTC):c.236G>A (p.Gly79Glu) AND Ornithine carbamoyltransferase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2002
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:: RCV000011753.10

Allele description [Variation Report for NM_000531.6(OTC):c.236G>A (p.Gly79Glu)]

NM_000531.6(OTC):c.236G>A (p.Gly79Glu)

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.236G>A (p.Gly79Glu)

Other names:

G47E

HGVS:

NC_000023.11:g.38369815G>A
NG_008471.1:g.22333G>A
NM_000531.6:c.236G>AMANE SELECT
NP_000522.3:p.Gly79Glu
LRG_846t1:c.236G>A
LRG_846:g.22333G>A
LRG_846p1:p.Gly79Glu
NC_000023.10:g.38229068G>A
NM_000531.5:c.236G>A
P00480:p.Gly79Glu

Protein change:

G79E; GLY47GLU

Links:

UniProtKB: P00480#VAR_004858; OMIM: 300461.0021; dbSNP: rs72554331

NCBI 1000 Genomes Browser:

rs72554331

Molecular consequence:

NM_000531.6:c.236G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031985	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 2002)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000031985

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 2002)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.

Hum Mutat. 2002 Feb;19(2):93-107. Review.

PubMed [citation]

PMID:: 11793468

Details of each submission

From OMIM, SCV000031985.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a male with neonatal onset of hyperammonemia caused by OTC deficiency (311250), Tuchman et al. (1992) identified a 236G-A transition in the OTC gene, resulting in a gly47-to-glu (G47E) substitution.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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