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NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser) AND Intellectual disability

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 10, 2020
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:
RCV001260693.2

Allele description [Variation Report for NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)]

NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)

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.3466A>T (p.Thr1156Ser)
HGVS:
  • NC_000002.12:g.210650424A>T
  • NG_008285.1:g.177740A>T
  • NM_001122633.3:c.3466A>T
  • NM_001369256.1:c.3499A>T
  • NM_001369257.1:c.3466A>T
  • NM_001875.5:c.3466A>TMANE SELECT
  • NP_001116105.2:p.Thr1156Ser
  • NP_001356185.1:p.Thr1167Ser
  • NP_001356186.1:p.Thr1156Ser
  • NP_001866.2:p.Thr1156Ser
  • LRG_336t1:c.3466A>T
  • LRG_336:g.177740A>T
  • NC_000002.11:g.211515148A>T
  • NM_001875.4:c.3466A>T
  • NR_161225.1:n.4375A>T
  • NR_163592.1:n.2622A>T
Protein change:
T1156S
Links:
dbSNP: rs201246466
NCBI 1000 Genomes Browser:
rs201246466
Molecular consequence:
  • NM_001122633.3:c.3466A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369256.1:c.3499A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369257.1:c.3466A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001875.5:c.3466A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_161225.1:n.4375A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_163592.1:n.2622A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001437785Diagnostic Laboratory, Strasbourg University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 10, 2020) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot provided1not 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 Diagnostic Laboratory, Strasbourg University Hospital, SCV001437785.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024