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NM_001040142.2(SCN2A):c.781_782delinsTC (p.Val261Ser) AND Episodic ataxia, type 9

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 8, 2002
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:
RCV002281615.1

Allele description [Variation Report for NM_001040142.2(SCN2A):c.781_782delinsTC (p.Val261Ser)]

NM_001040142.2(SCN2A):c.781_782delinsTC (p.Val261Ser)

Gene:
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001040142.2(SCN2A):c.781_782delinsTC (p.Val261Ser)
HGVS:
  • NC_000002.12:g.165310406_165310407delinsTC
  • NG_008143.1:g.76005_76006delinsTC
  • NM_001040142.2:c.781_782delinsTCMANE SELECT
  • NM_001040143.2:c.781_782delinsTC
  • NM_001371246.1:c.781_782delinsTC
  • NM_001371247.1:c.781_782delinsTC
  • NM_021007.3:c.781_782delinsTC
  • NP_001035232.1:p.Val261Ser
  • NP_001035233.1:p.Val261Ser
  • NP_001358175.1:p.Val261Ser
  • NP_001358176.1:p.Val261Ser
  • NP_066287.2:p.Val261Ser
  • NC_000002.11:g.166166916_166166917delinsTC
  • NM_021007.2:c.781_782delinsTC
Protein change:
V261S
Molecular consequence:
  • NM_001040142.2:c.781_782delinsTC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.781_782delinsTC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.781_782delinsTC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.781_782delinsTC - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.781_782delinsTC - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Episodic ataxia, type 9
Identifiers:
MONDO: MONDO:0030064; MedGen: C5394520; OMIM: 618924

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002570048Center of Excellence for Medical Genomics, Chulalongkorn University
no assertion criteria provided
Likely pathogenic
(Sep 8, 2002) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Center of Excellence for Medical Genomics, Chulalongkorn University, SCV002570048.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 17, 2022