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NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter) AND Developmental and epileptic encephalopathy, 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 31, 2022
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:
RCV002243173.2

Allele description [Variation Report for NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)]

NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)

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.527G>A (p.Trp176Ter)
HGVS:
  • NC_000023.11:g.18584326G>A
  • NG_008475.1:g.163722G>A
  • NM_001037343.2:c.527G>A
  • NM_001323289.2:c.527G>AMANE SELECT
  • NM_003159.3:c.527G>A
  • NP_001032420.1:p.Trp176Ter
  • NP_001310218.1:p.Trp176Ter
  • NP_003150.1:p.Trp176Ter
  • NC_000023.10:g.18602446G>A
  • NM_003159.2:c.527G>A
Protein change:
W176*
Links:
dbSNP: rs2147145565
NCBI 1000 Genomes Browser:
rs2147145565
Molecular consequence:
  • NM_001037343.2:c.527G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323289.2:c.527G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003159.3:c.527G>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002512422Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Jan 31, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002512422.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

ACMG classification criteria: PVS1 very strong, PM2 moderate

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 5, 2024