NM_001323289.2(CDKL5):c.2307_2309dup (p.Gln770dup) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 26, 2021
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:: RCV002027952.4

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2307_2309dup (p.Gln770dup)]

NM_001323289.2(CDKL5):c.2307_2309dup (p.Gln770dup)

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.2307_2309dup (p.Gln770dup)

HGVS:

NC_000023.11:g.18619897_18619899dup
NG_008475.1:g.199293_199295dup
NM_001037343.2:c.2307_2309dup
NM_001323289.2:c.2307_2309dupMANE SELECT
NM_003159.3:c.2307_2309dup
NP_001032420.1:p.Gln770dup
NP_001310218.1:p.Gln770dup
NP_003150.1:p.Gln770dup
NC_000023.10:g.18638015_18638016insAGC
NC_000023.10:g.18638017_18638019dup

Links:

dbSNP: rs1555954068

NCBI 1000 Genomes Browser:

rs1555954068

Molecular consequence:

NM_001037343.2:c.2307_2309dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001323289.2:c.2307_2309dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_003159.3:c.2307_2309dup - inframe_insertion - [Sequence Ontology: SO:0001821]

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

Name:: Angelman syndrome-like
Identifiers:: MedGen: CN128785

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002317299	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 26, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002317299

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 26, 2021)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002317299.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with CDKL5-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.2307_2309dup, results in the insertion of 1 amino acid(s) to the CDKL5 protein (p.Gln770dup), but otherwise preserves the integrity of the reading frame.

#	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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