NM_001323289.2(CDKL5):c.1596del (p.Thr533fs) AND West syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 1, 2016
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:: RCV000659289.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1596del (p.Thr533fs)]

NM_001323289.2(CDKL5):c.1596del (p.Thr533fs)

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.1596del (p.Thr533fs)

HGVS:

NC_000023.11:g.18604520del
NG_008475.1:g.183916del
NM_001037343.2:c.1596del
NM_001323289.2:c.1596delMANE SELECT
NM_003159.3:c.1596del
NP_001032420.1:p.Thr533fs
NP_001310218.1:p.Thr533fs
NP_003150.1:p.Thr533fs
NC_000023.10:g.18622640del
NM_003159.2:c.1596delC

Protein change:

T533fs

Links:

dbSNP: rs1555952078

NCBI 1000 Genomes Browser:

rs1555952078

Molecular consequence:

NM_001037343.2:c.1596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001323289.2:c.1596del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003159.3:c.1596del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: West syndrome
Identifiers:: MONDO: MONDO:0018097; MedGen: C0037769

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000781093	Center for Human Genetics, Inc, Center for Human Genetics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Nov 1, 2016)	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

SCV000781093

Center for Human Genetics, Inc, Center for Human Genetics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Nov 1, 2016)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Center for Human Genetics, Inc, Center for Human Genetics, Inc, SCV000781093.1

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

#	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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