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NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 9, 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:
RCV000608843.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr)]

NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr)

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.2680G>A (p.Ala894Thr)
HGVS:
  • NC_000023.11:g.18628554G>A
  • NG_008475.1:g.207950G>A
  • NM_001037343.2:c.2680G>A
  • NM_001323289.2:c.2680G>AMANE SELECT
  • NM_003159.3:c.2680G>A
  • NP_001032420.1:p.Ala894Thr
  • NP_001310218.1:p.Ala894Thr
  • NP_003150.1:p.Ala894Thr
  • NP_003150.1:p.Ala894Thr
  • NC_000023.10:g.18646674G>A
  • NM_003159.2:c.2680G>A
Protein change:
A894T
Links:
dbSNP: rs763110247
NCBI 1000 Genomes Browser:
rs763110247
Molecular consequence:
  • NM_001037343.2:c.2680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.2680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.2680G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000723515GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Oct 9, 2017) 		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, SCV000723515.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024