NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) AND Early infantile epileptic encephalopathy 11

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000585884.2

Allele description [Variation Report for NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)]

NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)

Gene:
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
HGVS:
  • NC_000002.12:g.165377645C>T
  • NG_008143.1:g.143244C>T
  • NM_001040142.2:c.4303C>TMANE SELECT
  • NM_001040143.2:c.4303C>T
  • NM_001371246.1:c.4303C>T
  • NM_001371247.1:c.4303C>T
  • NM_021007.3:c.4303C>T
  • NP_001035232.1:p.Arg1435Ter
  • NP_001035233.1:p.Arg1435Ter
  • NP_001358175.1:p.Arg1435Ter
  • NP_001358176.1:p.Arg1435Ter
  • NP_066287.2:p.Arg1435Ter
  • NP_066287.2:p.Arg1435Ter
  • NC_000002.11:g.166234155C>T
  • NM_001040142.1:c.4303C>T
  • NM_021007.2:c.4303C>T
Protein change:
R1435*
Links:
dbSNP: rs796053138
NCBI 1000 Genomes Browser:
rs796053138
Molecular consequence:
  • NM_001040142.2:c.4303C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001040143.2:c.4303C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371246.1:c.4303C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001371247.1:c.4303C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_021007.3:c.4303C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Early infantile epileptic encephalopathy 11 (DEE11)
Synonyms:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11
Identifiers:
MONDO: MONDO:0013388; MedGen: C3150987; Orphanet: 1934; OMIM: 613721

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000693773NeuroMeGen,Hospital Clinico Santiago de Compostelacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2018)
unknownclinical testing

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

SCV000803822Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3criteria provided, single submitter
Likely pathogenic
(Sep 13, 2017)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedclinical testing
not providedde novoyesnot 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 NeuroMeGen,Hospital Clinico Santiago de Compostela, SCV000693773.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne - Clinvar_gadteam_Clinical_exome_analysis_3, SCV000803822.1

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

Last Updated: Nov 27, 2021

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