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NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 10, 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:
RCV002317674.9

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)]

NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=)

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.1002T>C (p.Ala334=)
Other names:
NM_001323289.2(CDKL5):c.1002T>C; p.Ala334=
HGVS:
  • NC_000023.11:g.18603926T>C
  • NG_008475.1:g.183322T>C
  • NM_001037343.2:c.1002T>C
  • NM_001323289.2:c.1002T>CMANE SELECT
  • NM_003159.3:c.1002T>C
  • NP_001032420.1:p.Ala334=
  • NP_001310218.1:p.Ala334=
  • NP_003150.1:p.Ala334=
  • NP_003150.1:p.Ala334=
  • NC_000023.10:g.18622046T>C
  • NM_003159.2:c.1002T>C
Links:
dbSNP: rs756986206
NCBI 1000 Genomes Browser:
rs756986206
Molecular consequence:
  • NM_001037343.2:c.1002T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001323289.2:c.1002T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003159.3:c.1002T>C - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000850246Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 10, 2016) 		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, SCV000850246.5

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024