NM_003159.2(CDKL5):c.258C>G (p.Tyr86Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: May 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000488952.1

Allele description [Variation Report for NM_003159.2(CDKL5):c.258C>G (p.Tyr86Ter)]

NM_003159.2(CDKL5):c.258C>G (p.Tyr86Ter)

Gene:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_003159.2(CDKL5):c.258C>G (p.Tyr86Ter)
HGVS:
  • NC_000023.11:g.18575466C>G
  • NG_008475.1:g.154862C>G
  • NM_003159.2:c.258C>G
  • NP_003150.1:p.Tyr86Ter
  • NC_000023.10:g.18593586C>G
Protein change:
Y86*
Links:
dbSNP: rs1085307470
NCBI 1000 Genomes Browser:
rs1085307470
Molecular consequence:
  • NM_003159.2:c.258C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576514GeneDxcriteria provided, single submitter
Pathogenic
(May 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000576514.3

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

Description

The Y86X nonsense variant in the CDKL5 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this pathogenic variant has not been reported previously to our knowledge, other nonsense variants in the CDKL5 gene have been reported in association with CDKL5-related disorders (Stenson et al., 2014). Therefore, the presence of Y86X is consistent with the diagnosis of a CDKL5-related disorder in this individual.

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

Last Updated: Nov 3, 2018