NM_001323289.2(CDKL5):c.2277-4T>C AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 4, 2015
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:: RCV000483945.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2277-4T>C]

NM_001323289.2(CDKL5):c.2277-4T>C

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.2277-4T>C

HGVS:

NC_000023.11:g.18619863T>C
NG_008475.1:g.199259T>C
NM_001037343.2:c.2277-4T>C
NM_001323289.2:c.2277-4T>CMANE SELECT
NM_003159.3:c.2277-4T>C
NC_000023.10:g.18637983T>C
NM_003159.2:c.2277-4T>C

Links:

dbSNP: rs1064794369

NCBI 1000 Genomes Browser:

rs1064794369

Molecular consequence:

NM_001037343.2:c.2277-4T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001323289.2:c.2277-4T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_003159.3:c.2277-4T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000568978	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Dec 4, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000568978

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Dec 4, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000568978.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.2277-4 T>C variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.2277-4 T>Cvariant was not observed in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Severalin-silico splice prediction models predict that c.2277-4 T>C does not impact gene splicing. However, in the absenceof RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Additionally, thissubstitution occurs at a position that is conserved across species. Therefore, based on the currently availableinformation, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine