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NM_000330.4(RS1):c.185-3221G>A AND Developmental and epileptic encephalopathy, 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 4, 2020
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:
RCV001196426.10

Allele description [Variation Report for NM_000330.4(RS1):c.185-3221G>A]

NM_000330.4(RS1):c.185-3221G>A

Genes:
CDKL5:cyclin dependent kinase like 5 [Gene - OMIM - HGNC]
RS1:retinoschisin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.13
Genomic location:
Preferred name:
NM_000330.4(RS1):c.185-3221G>A
HGVS:
  • NC_000023.11:g.18650553C>T
  • NG_008475.1:g.229949C>T
  • NG_008659.3:g.31896G>A
  • NM_000330.4:c.185-3221G>AMANE SELECT
  • NM_001037343.2:c.2941C>T
  • NM_003159.3:c.2941C>T
  • NP_001032420.1:p.Arg981Ter
  • NP_003150.1:p.Arg981Ter
  • NP_003150.1:p.Arg981Ter
  • LRG_702:g.31896G>A
  • NC_000023.10:g.18668673C>T
  • NM_001037343.1:c.2941C>T
  • NM_003159.2:c.2941C>T
Protein change:
R981*
Links:
dbSNP: rs374054249
NCBI 1000 Genomes Browser:
rs374054249
Molecular consequence:
  • NM_000330.4:c.185-3221G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001037343.2:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003159.3:c.2941C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001367034Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Feb 4, 2020)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot 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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001367034.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2. This variant was detected in hemizygous state.

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

Last Updated: Jul 7, 2024