U.S. flag

An official website of the United States government

NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 25, 2021
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:
RCV000578897.4

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)]

NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter)

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.2842C>T (p.Arg948Ter)
Other names:
NM_001323289.2(CDKL5):c.2842C>T; p.Arg948Ter
HGVS:
  • NC_000023.11:g.18628716C>T
  • NG_008475.1:g.208112C>T
  • NM_001037343.2:c.2713+129C>T
  • NM_001323289.2:c.2842C>TMANE SELECT
  • NM_003159.3:c.2713+129C>T
  • NP_001310218.1:p.Arg948Ter
  • NC_000023.10:g.18646836C>T
  • NM_001323289.1:c.2842C>T
  • NM_003159.2:c.2713+129C>T
Protein change:
R948*
Links:
dbSNP: rs1555955296
NCBI 1000 Genomes Browser:
rs1555955296
Molecular consequence:
  • NM_001037343.2:c.2713+129C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003159.3:c.2713+129C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001323289.2:c.2842C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000681295GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jun 25, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000681295.4

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

Description

Nonsense variant predicted to result in protein truncation as the last 13 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (Lek 2006).; This variant is associated with the following publications: (PMID: 31814998, 32366967, 27535533)

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

Last Updated: Dec 28, 2024