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NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 18, 2017
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:
RCV002318854.9

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter)]

NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter)

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.1165C>T (p.Gln389Ter)
HGVS:
  • NC_000023.11:g.18604089C>T
  • NG_008475.1:g.183485C>T
  • NM_001037343.2:c.1165C>T
  • NM_001323289.2:c.1165C>TMANE SELECT
  • NM_003159.3:c.1165C>T
  • NP_001032420.1:p.Gln389Ter
  • NP_001310218.1:p.Gln389Ter
  • NP_003150.1:p.Gln389Ter
  • NP_003150.1:p.Gln389Ter
  • NC_000023.10:g.18622209C>T
  • NM_003159.2:c.1165C>T
Protein change:
Q389*
Links:
dbSNP: rs1569219346
NCBI 1000 Genomes Browser:
rs1569219346
Molecular consequence:
  • NM_001037343.2:c.1165C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001323289.2:c.1165C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003159.3:c.1165C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000851794Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 18, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000851794.5

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

Description

The p.Q389* pathogenic mutation (also known as c.1165C>T), located in coding exon 11 of the CDKL5 gene, results from a C to T substitution at nucleotide position 1165. This changes the amino acid from a glutamine to a stop codon within coding exon 11. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Nov 10, 2024