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NM_001323289.2(CDKL5):c.1060C>T (p.Pro354Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 2016
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:
RCV000486765.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1060C>T (p.Pro354Ser)]

NM_001323289.2(CDKL5):c.1060C>T (p.Pro354Ser)

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.1060C>T (p.Pro354Ser)
HGVS:
  • NC_000023.11:g.18603984C>T
  • NG_008475.1:g.183380C>T
  • NM_001037343.2:c.1060C>T
  • NM_001323289.2:c.1060C>TMANE SELECT
  • NM_003159.3:c.1060C>T
  • NP_001032420.1:p.Pro354Ser
  • NP_001310218.1:p.Pro354Ser
  • NP_003150.1:p.Pro354Ser
  • NP_003150.1:p.Pro354Ser
  • NC_000023.10:g.18622104C>T
  • NM_003159.2:c.1060C>T
Protein change:
P354S
Links:
dbSNP: rs1064794591
NCBI 1000 Genomes Browser:
rs1064794591
Molecular consequence:
  • NM_001037343.2:c.1060C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.1060C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.1060C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000569534GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 7, 2016) 		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, SCV000569534.3

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

Description

A variant of uncertain significance has been identified in the CDKL5 gene. The P354S variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to ourknowledge. It was not observed in approximately 6,500 individuals of European and AfricanAmerican ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benignvariant in these populations. The P354S variant is a non-conservative amino acid substitution,which is likely to impact secondary protein structure as these residues differ in polarity, charge,size and/or other properties. However, this substitution occurs at a position that is not conserved.In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging tothe protein structure/function. Therefore, based on the currently available information, it is unclearwhether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Apr 23, 2022