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NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs) AND Developmental and epileptic encephalopathy, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 29, 2016
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:
RCV001253069.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs)]

NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs)
HGVS:
  • NC_000023.11:g.18604018dup
  • NG_008475.1:g.183414dup
  • NM_001037343.2:c.1094dup
  • NM_001323289.2:c.1094dupMANE SELECT
  • NM_003159.3:c.1094dup
  • NP_001032420.1:p.Ser365fs
  • NP_001032420.1:p.Ser365fs
  • NP_001310218.1:p.Ser365fs
  • NP_003150.1:p.Ser365fs
  • NC_000023.10:g.18622138dup
  • NM_001037343.1:c.1094dup
Protein change:
S365fs
Links:
dbSNP: rs1926261579
NCBI 1000 Genomes Browser:
rs1926261579
Molecular consequence:
  • NM_001037343.2:c.1094dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001323289.2:c.1094dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_003159.3:c.1094dup - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001428591Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 29, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001428591.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023