NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg) AND Hyperammonemia, type III

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 1, 2007
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:: RCV000002535.3

Allele description [Variation Report for NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg)]

NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg)

Gene:

NAGS:N-acetylglutamate synthase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_153006.3(NAGS):c.1450T>C (p.Trp484Arg)

HGVS:

NC_000017.11:g.44007772T>C
NG_008106.1:g.8109T>C
NG_023338.1:g.1698A>G
NM_153006.3:c.1450T>CMANE SELECT
NP_694551.1:p.Trp484Arg
NC_000017.10:g.42085140T>C
Q8N159:p.Trp484Arg

Protein change:

W484R; TRP484ARG

Links:

UniProtKB: Q8N159#VAR_023509; OMIM: 608300.0007; dbSNP: rs104894606

NCBI 1000 Genomes Browser:

rs104894606

Molecular consequence:

NM_153006.3:c.1450T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hyperammonemia, type III (NAGSD)
Synonyms:: NAG synthetase deficiency; Hyperammonemia due to N-acetylglutamate synthase deficiency
Identifiers:: MONDO: MONDO:0009377; MedGen: C0268543; Orphanet: 927; OMIM: 237310

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022693	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 2007)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12754705, 17421020

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022693

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 2007)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Mutation analysis in patients with N-acetylglutamate synthase deficiency.

Häberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG.

Hum Mutat. 2003 Jun;21(6):593-7.

PubMed [citation]

PMID:: 12754705

Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.

Caldovic L, Morizono H, Tuchman M.

Hum Mutat. 2007 Aug;28(8):754-9.

PubMed [citation]

PMID:: 17421020

Details of each submission

From OMIM, SCV000022693.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

Haberle et al. (2003) concluded that a deceased patient who had neonatal hyperammonemia due to N-acetylglutamate synthase deficiency (NAGSD; 237310) was homozygous for a trp484-to-arg (W484R) mutation in the NAGS gene because both parents were heterozygous for the mutation.

Caldovic et al. (2007) found that the W484R substitution has less than 5% residual enzyme activity. The substitution results from a 1450T-C transition in exon 6.

#	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: Nov 29, 2022

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