NM_001875.5(CPS1):c.1010A>G (p.His337Arg) AND Congenital hyperammonemia, type I

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2001
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:: RCV000002522.4

Allele description [Variation Report for NM_001875.5(CPS1):c.1010A>G (p.His337Arg)]

NM_001875.5(CPS1):c.1010A>G (p.His337Arg)

Gene:

CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q34

Genomic location:

Preferred name:

NM_001875.5(CPS1):c.1010A>G (p.His337Arg)

HGVS:

NC_000002.12:g.210591893A>G
NG_008285.1:g.119209A>G
NM_001122633.3:c.1010A>G
NM_001369256.1:c.1043A>G
NM_001369257.1:c.1010A>G
NM_001875.5:c.1010A>GMANE SELECT
NP_001116105.2:p.His337Arg
NP_001356185.1:p.His348Arg
NP_001356186.1:p.His337Arg
NP_001866.2:p.His337Arg
LRG_336t1:c.1010A>G
LRG_336:g.119209A>G
LRG_336p1:p.His337Arg
NC_000002.11:g.211456617A>G
NR_161225.1:n.1922A>G
P31327:p.His337Arg

Protein change:

H337R; HIS337ARG

Links:

UniProtKB: P31327#VAR_014077; OMIM: 608307.0004; dbSNP: rs28940283

NCBI 1000 Genomes Browser:

rs28940283

Molecular consequence:

NM_001122633.3:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369256.1:c.1043A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001369257.1:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001875.5:c.1010A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_161225.1:n.1922A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Congenital hyperammonemia, type I
Synonyms:: CPS I DEFICIENCY; Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency; CPS 1 deficiency; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009376; MedGen: C4082171; Orphanet: 147; OMIM: 237300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022680	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2001)	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

SCV000022680

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2001)

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

Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency.

Aoshima T, Kajita M, Sekido Y, Kikuchi S, Yasuda I, Saheki T, Watanabe K, Shimokata K, Niwa T.

Hum Hered. 2001;52(2):99-101. No abstract available.

PubMed [citation]

PMID:: 11474210

Details of each submission

From OMIM, SCV000022680.3

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

Description

Aoshima et al. (2001) described compound heterozygosity for 2 mutations in the CPS1 gene in a Japanese girl who at day 9 showed lethargy and grunting with severe hyperammonemia. She was suspected of suffering from CPS I deficiency (237300) because of elevated blood glutamine and glutamic acid concentration, low blood citrulline concentration, and absence of orotic aciduria. At 16 months of age, a diagnosis of CPS I deficiency was established enzymatically. The 2 mutations in this case were a 1010A-G transition resulting in a his337-to-arg (H337R) substitution, and a 4.2-kb deletion (608307.0005) resulting in a 375-bp in-frame deletion of codons 238-362. Three exons were skipped.

#	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: Apr 23, 2022

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