NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) AND Intellectual disability

Clinical significance:Pathogenic (Last evaluated: Sep 10, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001260657.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)]

NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
Other names:
p.R178W:CGG>TGG
HGVS:
  • NC_000023.11:g.18584331C>T
  • NG_008475.1:g.163727C>T
  • NM_001037343.2:c.532C>T
  • NM_001323289.2:c.532C>TMANE SELECT
  • NM_003159.2:c.532C>T
  • NM_003159.3:c.532C>T
  • NP_001032420.1:p.Arg178Trp
  • NP_001310218.1:p.Arg178Trp
  • NP_003150.1:p.Arg178Trp
  • NP_003150.1:p.Arg178Trp
  • NC_000023.10:g.18602451C>T
  • p.(Arg178Trp)
Protein change:
R178W
Links:
RettBASE (CDKL5): 69; dbSNP: rs267608493
NCBI 1000 Genomes Browser:
rs267608493
Molecular consequence:
  • NM_001037343.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.2:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.532C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Intellectual disability
Synonyms:
Intellectual functioning disability
Identifiers:
MONDO: MONDO:0001071; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001437749Diagnostic Laboratory, Strasbourg University Hospitalcriteria provided, single submitter
Pathogenic
(Sep 10, 2020)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV001437749.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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