U.S. flag

An official website of the United States government

NM_001323289.2(CDKL5):c.283-13A>G AND CDKL5 disorder

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 14, 2023
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV003235065.8

Allele description [Variation Report for NM_001323289.2(CDKL5):c.283-13A>G]

NM_001323289.2(CDKL5):c.283-13A>G

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.283-13A>G
HGVS:
  • NC_000023.11:g.18579835A>G
  • NG_008475.1:g.159231A>G
  • NM_001037343.2:c.283-13A>G
  • NM_001323289.2:c.283-13A>GMANE SELECT
  • NM_003159.3:c.283-13A>G
  • NC_000023.10:g.18597955A>G
  • NM_003159.2:c.283-13A>G
Links:
dbSNP: rs587783404
NCBI 1000 Genomes Browser:
rs587783404
Molecular consequence:
  • NM_001037343.2:c.283-13A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323289.2:c.283-13A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003159.3:c.283-13A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
CDKL5 disorder
Identifiers:
MONDO: MONDO:0100039; MedGen: CN296942

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV003933682ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel
reviewed by expert panel

(ClinGen RettAS ACMG Specifications V2)
Benign
(Apr 14, 2023)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel, SCV003933682.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The allele frequency of the c.283-13 A>G variant in CDKL5 is 0.036% in Latino sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the c.283-13 A>G variant in CDKL5 is classified as benign based on the ACMG/AMP criteria (BA1).

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

Last Updated: Jul 15, 2024