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NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) AND Complex neurodevelopmental disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 20, 2016
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:
RCV001265279.1

Allele description [Variation Report for NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)]

NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)

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.5333A>T (p.Asn1778Ile)
HGVS:
  • NC_000002.12:g.165389139A>T
  • NG_008143.1:g.154738A>T
  • NM_001040142.2:c.5333A>TMANE SELECT
  • NM_001040143.2:c.5333A>T
  • NM_001371246.1:c.5333A>T
  • NM_001371247.1:c.5333A>T
  • NM_021007.3:c.5333A>T
  • NP_001035232.1:p.Asn1778Ile
  • NP_001035233.1:p.Asn1778Ile
  • NP_001358175.1:p.Asn1778Ile
  • NP_001358176.1:p.Asn1778Ile
  • NP_066287.2:p.Asn1778Ile
  • NC_000002.11:g.166245649A>T
  • NM_021007.2:c.5333A>T
Protein change:
N1778I
Links:
dbSNP: rs1574752700
NCBI 1000 Genomes Browser:
rs1574752700
Molecular consequence:
  • NM_001040142.2:c.5333A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.5333A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.5333A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.5333A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.5333A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Complex neurodevelopmental disorder
Identifiers:
MONDO: MONDO:0100038; MedGen: C5568766

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001443396GenomeConnect - Simons Searchlight
no assertion criteria provided
Likely pathogenic
(Jun 20, 2016) 		de novoprovider interpretation

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedprovider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443396.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedprovider interpretationnot provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-06-20 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-05-06 by GTR ID of laboratory name 500035. The reporting laboratory might also submit to ClinVar.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024