NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Oct 16, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001244788.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)]

NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)

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.1648C>T (p.Arg550Ter)
Other names:
p.R550*:CGA>TGA
HGVS:
  • NC_000023.11:g.18604572C>T
  • NG_008475.1:g.183968C>T
  • NM_001037343.1:c.1648C>T
  • NM_001037343.2:c.1648C>T
  • NM_001323289.2:c.1648C>TMANE SELECT
  • NM_003159.2:c.1648C>T
  • NM_003159.3:c.1648C>T
  • NP_001032420.1:p.Arg550Ter
  • NP_001032420.1:p.Arg550Ter
  • NP_001310218.1:p.Arg550Ter
  • NP_003150.1:p.Arg550Ter
  • NP_003150.1:p.Arg550Ter
  • NC_000023.10:g.18622692C>T
Protein change:
R550*
Links:
RettBASE (CDKL5): 47; dbSNP: rs267608643
NCBI 1000 Genomes Browser:
rs267608643
Molecular consequence:
  • NM_001037343.1:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001037343.2:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323289.2:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003159.2:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003159.3:c.1648C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Early infantile epileptic encephalopathy 2 (DEE2)
Synonyms:
INFANTILE SPASM SYNDROME, X-LINKED 2
Identifiers:
MONDO: MONDO:0010396; MedGen: C4750718; Orphanet: 1934; Orphanet: 3451; OMIM: 300672
Name:
Angelman syndrome-like
Identifiers:
MedGen: CN128785

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001418032Invitaecriteria provided, single submitter
Pathogenic
(Oct 16, 2019)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Clinical and electroencephalographic features in patients with CDKL5 mutations: two new Italian cases and review of the literature.

Pintaudi M, Baglietto MG, Gaggero R, Parodi E, Pessagno A, Marchi M, Russo S, Veneselli E.

Epilepsy Behav. 2008 Feb;12(2):326-31. Epub 2007 Dec 11. Review.

PubMed [citation]
PMID:
18063413

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and Rett-like features.

Rademacher N, Hambrock M, Fischer U, Moser B, Ceulemans B, Lieb W, Boor R, Stefanova I, Gillessen-Kaesbach G, Runge C, Korenke GC, Spranger S, Laccone F, Tzschach A, Kalscheuer VM.

Neurogenetics. 2011 May;12(2):165-7. doi: 10.1007/s10048-011-0277-6. Epub 2011 Feb 12. No abstract available.

PubMed [citation]
PMID:
21318334
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001418032.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change creates a premature translational stop signal (p.Arg550*) in the CDKL5 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with CDKL5-related conditions (PMID: 18063413, 21318334, 22678952). ClinVar contains an entry for this variant (Variation ID: 143780). Loss-of-function variants in CDKL5 are known to be pathogenic (PMID: 22872100). For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

Support Center