NM_001323289.2(CDKL5):c.2608dup (p.Ser870fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 16, 2013
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:: RCV000144797.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2608dup (p.Ser870fs)]

NM_001323289.2(CDKL5):c.2608dup (p.Ser870fs)

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.2608dup (p.Ser870fs)

HGVS:

NC_000023.11:g.18628482dup
NG_008475.1:g.207878dup
NM_001037343.2:c.2608dup
NM_001323289.2:c.2608dupMANE SELECT
NM_003159.3:c.2608dup
NP_001032420.1:p.Ser870fs
NP_001310218.1:p.Ser870fs
NP_003150.1:p.Ser870fs
NC_000023.10:g.18646602dup
NM_003159.2:c.2608_2609insT
p.S870FfsX40

Protein change:

S870fs

Links:

dbSNP: rs587783126

NCBI 1000 Genomes Browser:

rs587783126

Molecular consequence:

NM_001037343.2:c.2608dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323289.2:c.2608dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003159.3:c.2608dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000191021	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jul 16, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000191021

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jul 16, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000191021.2

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

Description

The c.2608_2609insT (aka c.2608dupT) mutation in the CDKL5 gene causes a frameshift starting with codon Serine 870, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 40 of the new reading frame, denoted p.Ser870PhefsX40. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in INFANT-EPI panel(s).

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

Last Updated: Apr 23, 2022

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