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NM_001323289.2(CDKL5):c.2153-2A>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2022
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:
RCV003152091.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2153-2A>G]

NM_001323289.2(CDKL5):c.2153-2A>G

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.2153-2A>G
HGVS:
  • NC_000023.11:g.18613150A>G
  • NG_008475.1:g.192546A>G
  • NM_001037343.2:c.2153-2A>G
  • NM_001323289.2:c.2153-2A>GMANE SELECT
  • NM_003159.3:c.2153-2A>G
  • NC_000023.10:g.18631270A>G
Molecular consequence:
  • NM_001037343.2:c.2153-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001323289.2:c.2153-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_003159.3:c.2153-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003840482GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Sep 16, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV003840482.1

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

Description

Canonical splice site variant with an unclear effect on protein function; Internal targeted RNA studies in blood for c.2153-1G>T suggest that variants at this splice acceptor site may result in multiple alternatively spliced transcripts; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Jun 10, 2023