NM_000531.6(OTC):c.646C>G (p.Gln216Glu) AND Ornithine carbamoyltransferase deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 1989
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:: RCV000011737.8

Allele description [Variation Report for NM_000531.6(OTC):c.646C>G (p.Gln216Glu)]

NM_000531.6(OTC):c.646C>G (p.Gln216Glu)

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.646C>G (p.Gln216Glu)

HGVS:

NC_000023.11:g.38403723C>G
NG_008471.1:g.56241C>G
NM_000531.6:c.646C>GMANE SELECT
NP_000522.3:p.Gln216Glu
LRG_846t1:c.646C>G
LRG_846:g.56241C>G
LRG_846p1:p.Gln216Glu
NC_000023.10:g.38262976C>G
NM_000531.5:c.646C>G
P00480:p.Gln216Glu

Protein change:

Q216E; GLN216GLU

Links:

UniProtKB: P00480#VAR_004911; OMIM: 300461.0005; dbSNP: rs72558423

NCBI 1000 Genomes Browser:

rs72558423

Molecular consequence:

NM_000531.6:c.646C>G - 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
SCV000031969	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1989)	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

SCV000031969

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1989)

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

Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.

Grompe M, Muzny DM, Caskey CT.

Proc Natl Acad Sci U S A. 1989 Aug;86(15):5888-92.

PubMed [citation]

PMID:: 2474822
PMCID:: PMC297736

Details of each submission

From OMIM, SCV000031969.3

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

Description

In a patient with OTC deficiency (311250), Grompe et al. (1989) found a C-G mutation, resulting in a gln216-to-glu (Q216E) change.

#	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: Aug 19, 2023

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