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NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) AND multiple conditions

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 11, 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:
RCV002494816.1

Allele description [Variation Report for NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)]

NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)

Gene:
CPS1:carbamoyl-phosphate synthase 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2q34
Genomic location:
Preferred name:
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
HGVS:
  • NC_000002.12:g.210591913_210591915delinsGCT
  • NG_008285.1:g.119229_119231delinsGCT
  • NM_001122633.3:c.1030_1032delinsGCT
  • NM_001369256.1:c.1063_1065delinsGCT
  • NM_001369257.1:c.1030_1032delinsGCT
  • NM_001875.3:c.1030_1032delinsGCT
  • NM_001875.5:c.1030_1032delinsGCTMANE SELECT
  • NP_001116105.2:p.Thr344Ala
  • NP_001356185.1:p.Thr355Ala
  • NP_001356186.1:p.Thr344Ala
  • NP_001866.2:p.Thr344Ala
  • LRG_336:g.119229_119231delinsGCT
  • NC_000002.11:g.211456637_211456639delinsGCT
  • NM_001875.3:c.1030_1032ACC>GCT
  • NM_001875.3:c.1030_1032delinsGCT
  • NM_001875.5:c.1030_1032delinsGCT
  • NR_161225.1:n.1942_1944delinsGCT
Protein change:
T344A
Links:
dbSNP: rs386654705
NCBI 1000 Genomes Browser:
rs386654705
Molecular consequence:
  • NM_001122633.3:c.1030_1032delinsGCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369256.1:c.1063_1065delinsGCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369257.1:c.1030_1032delinsGCT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001875.5:c.1030_1032delinsGCT - missense variant - [Sequence Ontology: SO:0001583]
  • NR_161225.1:n.1942_1944delinsGCT - 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
Name:
Pulmonary hypertension, neonatal, susceptibility to (PHN)
Identifiers:
MONDO: MONDO:0014151; MedGen: C3714958; OMIM: 615371

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002800237Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Nov 11, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002800237.1

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

Last Updated: Feb 28, 2024