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NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter) AND Developmental and epileptic encephalopathy, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 16, 2012
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:
RCV000145534.6

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)]

NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)

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.2596C>T (p.Gln866Ter)
Other names:
p.Q866*:CAA>TAA
HGVS:
  • NC_000023.11:g.18628470C>T
  • NG_008475.1:g.207866C>T
  • NM_001037343.2:c.2596C>T
  • NM_001323289.2:c.2596C>TMANE SELECT
  • NM_003159.3:c.2596C>T
  • NP_001032420.1:p.Gln866Ter
  • NP_001032420.1:p.Gln866Ter
  • NP_001310218.1:p.Gln866Ter
  • NP_003150.1:p.Gln866Ter
  • NP_003150.1:p.Gln866Ter
  • NC_000023.10:g.18646590C>T
  • NM_001037343.1:c.2596C>T
  • NM_003159.2:c.2596C>T
Protein change:
Q866*
Links:
dbSNP: rs587783158
NCBI 1000 Genomes Browser:
rs587783158
Molecular consequence:
  • NM_001037343.2:c.2596C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323289.2:c.2596C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003159.3:c.2596C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000192623Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)		Pathogenic
(Nov 16, 2012) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000192623.1

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

Last Updated: Sep 29, 2024