NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) AND CDKL5 disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 26, 2021
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:: RCV001507063.4

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn)]

NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn)

Gene:

CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xp22.13

Genomic location:

Preferred name:

NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn)

HGVS:

NC_000023.11:g.18604220_18604222del
NG_008475.1:g.183616_183618del
NM_001037343.2:c.1296_1298del
NM_001323289.2:c.1296_1298delMANE SELECT
NM_003159.3:c.1296_1298del
NP_001032420.1:p.Lys432_Tyr433delinsAsn
NP_001310218.1:p.Lys432_Tyr433delinsAsn
NP_003150.1:p.Lys432_Tyr433delinsAsn
NP_003150.1:p.Lys432_Tyr433delinsAsn
NC_000023.10:g.18622339_18622341del
NC_000023.10:g.18622340_18622342del
NC_000023.11:g.18604220_18604222delGTA
NM_003159.2(CDKL5):c.1296_1298del
NM_003159.2:c.1296_1298del
p.Lys432_Tyr433delinsAsn

Links:

dbSNP: rs1555951997

NCBI 1000 Genomes Browser:

rs1555951997

Molecular consequence:

NM_001037343.2:c.1296_1298del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001323289.2:c.1296_1298del - inframe_indel - [Sequence Ontology: SO:0001820]
NM_003159.3:c.1296_1298del - inframe_indel - [Sequence Ontology: SO:0001820]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001712032	ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	reviewed by expert panel (ClinGen RettAS ACMG Specifications V1)	Uncertain significance (Mar 26, 2021)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001712032

ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

reviewed by expert panel

(ClinGen RettAS ACMG Specifications V1)

Uncertain significance
(Mar 26, 2021)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel, SCV001712032.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

Description

The p.Lys432_Tyr433delinsAsn variant in CDKL5 is absent from gnomAD (PM2_supporting). The p.Lys432_Tyr433delinsAsn variant causes a change in the length of 1 amino acid in the protein due to an in-frame deletion or insertion in a non-repeat region of CDKL5 (PM4_supporting). In summary, p.Lys432_Tyr433delinsAsn variant in CDKL5 is classified as a variant of uncertain significance based on the ACMG/AMP criteria (PM2_supporting, PM4_supporting).

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

Last Updated: Sep 29, 2024

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