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NM_001875.5(CPS1):c.2200T>A (p.Leu734Met) AND Congenital hyperammonemia, type I

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 22, 2021
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:
RCV001580672.2

Allele description [Variation Report for NM_001875.5(CPS1):c.2200T>A (p.Leu734Met)]

NM_001875.5(CPS1):c.2200T>A (p.Leu734Met)

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.2200T>A (p.Leu734Met)
HGVS:
  • NC_000002.12:g.210608368T>A
  • NG_008285.1:g.135684T>A
  • NM_001122633.3:c.2200T>A
  • NM_001369256.1:c.2233T>A
  • NM_001369257.1:c.2200T>A
  • NM_001875.5:c.2200T>AMANE SELECT
  • NP_001116105.2:p.Leu734Met
  • NP_001356185.1:p.Leu745Met
  • NP_001356186.1:p.Leu734Met
  • NP_001866.2:p.Leu734Met
  • LRG_336t1:c.2200T>A
  • LRG_336:g.135684T>A
  • NC_000002.11:g.211473092T>A
  • NM_001875.4:c.2200T>A
  • NR_161225.1:n.3109T>A
  • NR_163592.1:n.1356T>A
Protein change:
L734M
Links:
dbSNP: rs1297131870
NCBI 1000 Genomes Browser:
rs1297131870
Molecular consequence:
  • NM_001122633.3:c.2200T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369256.1:c.2233T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369257.1:c.2200T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001875.5:c.2200T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_161225.1:n.3109T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163592.1:n.1356T>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001810366Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 22, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV001810366.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023