NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) AND Developmental and epileptic encephalopathy, 2

Germline classification:: Pathogenic (1 submission)
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:: RCV003326138.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter)]

NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter)

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.1519C>T (p.Gln507Ter)

HGVS:

NC_000023.11:g.18604443C>T
NG_008475.1:g.183839C>T
NM_001037343.2:c.1519C>T
NM_001323289.2:c.1519C>TMANE SELECT
NM_003159.3:c.1519C>T
NP_001032420.1:p.Gln507Ter
NP_001310218.1:p.Gln507Ter
NP_003150.1:p.Gln507Ter
NP_003150.1:p.Gln507Ter
NC_000023.10:g.18622563C>T
NM_003159.2:c.1519C>T

Protein change:

Q507*

Links:

dbSNP: rs1555952052

NCBI 1000 Genomes Browser:

rs1555952052

Molecular consequence:

NM_001037343.2:c.1519C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001323289.2:c.1519C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003159.3:c.1519C>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004032230	Pediatric Department, Xiangya Hospital, Central South University	no assertion criteria provided (ACMG Guidelines, 2015)	Pathogenic	de novo	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004032230

Pediatric Department, Xiangya Hospital, Central South University

no assertion criteria provided

(ACMG Guidelines, 2015)

Pathogenic

de novo

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	research

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 Pediatric Department, Xiangya Hospital, Central South University, SCV004032230.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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