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NM_001323289.2(CDKL5):c.1921_1922del (p.Ser641fs) AND Epileptic encephalopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 29, 2017
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:
RCV000678785.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1921_1922del (p.Ser641fs)]

NM_001323289.2(CDKL5):c.1921_1922del (p.Ser641fs)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.1921_1922del (p.Ser641fs)
HGVS:
  • NC_000023.11:g.18604845_18604846del
  • NG_008475.1:g.184241_184242del
  • NM_001037343.2:c.1921_1922del
  • NM_001323289.2:c.1921_1922delMANE SELECT
  • NM_003159.3:c.1921_1922del
  • NP_001032420.1:p.Ser641fs
  • NP_001310218.1:p.Ser641fs
  • NP_003150.1:p.Ser641fs
  • NP_003150.1:p.Ser641fs
  • NC_000023.10:g.18622965_18622966del
  • NM_003159.2:c.1921_1922del
Protein change:
S641fs
Links:
dbSNP: rs1569219844
NCBI 1000 Genomes Browser:
rs1569219844
Molecular consequence:
  • NM_001037343.2:c.1921_1922del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323289.2:c.1921_1922del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003159.3:c.1921_1922del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Epileptic encephalopathy
Identifiers:
MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000804965Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(Mar 29, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000804965.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022