U.S. flag

An official website of the United States government

NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) AND Developmental and epileptic encephalopathy, 2

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 5, 2018
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:
RCV000662107.4

Allele description [Variation Report for NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr)]

NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr)

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.1094G>C (p.Ser365Thr)
HGVS:
  • NC_000023.11:g.18604018G>C
  • NG_008475.1:g.183414G>C
  • NM_001037343.2:c.1094G>C
  • NM_001323289.2:c.1094G>CMANE SELECT
  • NM_003159.3:c.1094G>C
  • NP_001032420.1:p.Ser365Thr
  • NP_001032420.1:p.Ser365Thr
  • NP_001310218.1:p.Ser365Thr
  • NP_003150.1:p.Ser365Thr
  • NC_000023.10:g.18622138G>C
  • NM_001037343.1:c.1094G>C
Protein change:
S365T
Links:
dbSNP: rs1279388510
NCBI 1000 Genomes Browser:
rs1279388510
Molecular consequence:
  • NM_001037343.2:c.1094G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.1094G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.1094G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Developmental and epileptic encephalopathy, 2 (DEE2)
Synonyms:
INFANTILE SPASM SYNDROME, X-LINKED 2; Early infantile epileptic encephalopathy 2
Identifiers:
MONDO: MONDO:0010396; MedGen: C4750718; Orphanet: 1934; Orphanet: 3451; OMIM: 300672

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
SCV000784447Genomic Research Center, Shahid Beheshti University of Medical Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benign
(Mar 5, 2018) 		inheritedclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000784447.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023