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NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) AND Developmental and epileptic encephalopathy, 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 26, 2019
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:
RCV000985112.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)]

NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)

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.291C>T (p.Leu97=)
Other names:
NM_001323289.2(CDKL5):c.291C>T; p.Leu97=
HGVS:
  • NC_000023.11:g.18579856C>T
  • NG_008475.1:g.159252C>T
  • NM_001037343.2:c.291C>T
  • NM_001323289.2:c.291C>TMANE SELECT
  • NM_003159.3:c.291C>T
  • NP_001032420.1:p.Leu97=
  • NP_001032420.1:p.Leu97=
  • NP_001310218.1:p.Leu97=
  • NP_003150.1:p.Leu97=
  • NP_003150.1:p.Leu97=
  • NC_000023.10:g.18597976C>T
  • NM_001037343.1:c.291C>T
  • NM_003159.2:c.291C>T
Links:
dbSNP: rs138125282
NCBI 1000 Genomes Browser:
rs138125282
Molecular consequence:
  • NM_001037343.2:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323289.2:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003159.3:c.291C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001133083Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City
no assertion criteria provided
Likely pathogenic
(Sep 26, 2019) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City, SCV001133083.1

#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: Mar 5, 2024