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NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jan 1, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000831115.25

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)]

NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val)

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.1564T>G (p.Leu522Val)
Other names:
NM_001323289.2(CDKL5):c.1564T>G; p.Leu522Val
HGVS:
  • NC_000023.11:g.18604488T>G
  • NG_008475.1:g.183884T>G
  • NM_001037343.2:c.1564T>G
  • NM_001323289.2:c.1564T>GMANE SELECT
  • NM_003159.3:c.1564T>G
  • NP_001032420.1:p.Leu522Val
  • NP_001310218.1:p.Leu522Val
  • NP_003150.1:p.Leu522Val
  • NP_003150.1:p.Leu522Val
  • NC_000023.10:g.18622608T>G
  • NM_003159.2:c.1564T>G
Protein change:
L522V
Links:
dbSNP: rs781427744
NCBI 1000 Genomes Browser:
rs781427744
Molecular consequence:
  • NM_001037343.2:c.1564T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.1564T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.1564T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000972856GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jun 15, 2018) 		germlineclinical testing

Citation Link,

SCV001246517CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely benign
(Jan 1, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000972856.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From CeGaT Center for Human Genetics Tuebingen, SCV001246517.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided

Description

CDKL5: BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 20, 2024