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NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser) AND Developmental and epileptic encephalopathy, 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 16, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV002249819.1

Allele description [Variation Report for NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser)]

NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser)

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.212A>G (p.Asn71Ser)
Other names:
p.(Asn71Ser)
HGVS:
  • NC_000023.11:g.18575420A>G
  • NG_008475.1:g.154816A>G
  • NM_001037343.2:c.212A>G
  • NM_001323289.2:c.212A>GMANE SELECT
  • NM_003159.3:c.212A>G
  • NP_001032420.1:p.Asn71Ser
  • NP_001310218.1:p.Asn71Ser
  • NP_003150.1:p.Asn71Ser
  • NP_003150.1:p.Asn71Ser
  • NC_000023.10:g.18593540A>G
  • NM_001037343.1:c.212A>G
  • NM_003159.2:c.212A>G
Protein change:
N71S
Links:
dbSNP: rs1925264314
NCBI 1000 Genomes Browser:
rs1925264314
Molecular consequence:
  • NM_001037343.2:c.212A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001323289.2:c.212A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003159.3:c.212A>G - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002515275Pediatrics, MediClubGeorgia
no assertion criteria provided
Likely pathogenic
(May 16, 2022)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Whiteunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Pediatrics, MediClubGeorgia, SCV002515275.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1White1not providednot providedclinical testing PubMed (1)

Description

The CDKL5 variant c.212A>G p.(Asn71Ser) causes an amino acid change from Asn to Ser at position 71. Sanger confirmed the indicated mosaic state of the variant. This variant is not described in literature yet. Still, a different variant that changes the same amino acid has been described as disease-causing (Artuso et al., 2010 and Sartori et al., 2011 (PMID: 19362436, 21482751), indicating that this position is clinically significant, and variants that disrupt this position are likely to be disease-causing This variant is present in population databases. ClinVar does not contain the entry for this variant. MutationTaster: Disease causing, PolyPhen: Probably damaging, Conservation: nt high/aa high.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023