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NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) AND Autism

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 9, 2014
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:
RCV000133325.3

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr)]

NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr)

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.1523T>C (p.Ile508Thr)
Other names:
NM_001323289.2(CDKL5):c.1523T>C; p.Ile508Thr
HGVS:
  • NC_000023.11:g.18604447T>C
  • NG_008475.1:g.183843T>C
  • NM_001037343.2:c.1523T>C
  • NM_001323289.2:c.1523T>CMANE SELECT
  • NM_003159.3:c.1523T>C
  • NP_001032420.1:p.Ile508Thr
  • NP_001310218.1:p.Ile508Thr
  • NP_003150.1:p.Ile508Thr
  • NP_003150.1:p.Ile508Thr
  • NC_000023.10:g.18622567T>C
  • NM_003159.2:c.1523T>C
Protein change:
I508T
Links:
RettBASE (CDKL5): 121; dbSNP: rs201893287
NCBI 1000 Genomes Browser:
rs201893287
Molecular consequence:
  • NM_001037343.2:c.1523T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.1523T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.1523T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autism (AUTS)
Synonyms:
Autistic disorder; Autistic disorder of childhood onset
Identifiers:
MONDO: MONDO:0005260; MeSH: D001321; MedGen: C0004352; OMIM: 209850; Human Phenotype Ontology: HP:0000717

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000188334RettBASE
no assertion criteria provided
Uncertain significance
(May 9, 2014) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownno1not providednot provided1not providedcuration
not providedunknownyes1not providednot provided1not providedcuration

Citations

PubMed

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Piton A, Gauthier J, Hamdan FF, Lafrenière RG, Yang Y, Henrion E, Laurent S, Noreau A, Thibodeau P, Karemera L, Spiegelman D, Kuku F, Duguay J, Destroismaisons L, Jolivet P, Côté M, Lachapelle K, Diallo O, Raymond A, Marineau C, Champagne N, Xiong L, et al.

Mol Psychiatry. 2011 Aug;16(8):867-80. doi: 10.1038/mp.2010.54. Epub 2010 May 18.

PubMed [citation]
PMID:
20479760
PMCID:
PMC3289139

Details of each submission

From RettBASE, SCV000188334.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (1)
2not provided1not providednot providedcuration PubMed (1)

Description

"Not Rett syndrome - autism spectrum disorder"

PubMed [ID: 20479760]

"Unaffected - unaffected family member"

PubMed [ID: 20479760]

Description

In silico predictions: SIFT = deleterious, MutationTaster = polymorphism, PolyPhen2 = benign, AlignGVGD = benign (C0)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided
2unknownno1not providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024