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NM_001040142.2(SCN2A):c.697G>C (p.Gly233Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 12, 2019
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:
RCV001580854.3

Allele description [Variation Report for NM_001040142.2(SCN2A):c.697G>C (p.Gly233Arg)]

NM_001040142.2(SCN2A):c.697G>C (p.Gly233Arg)

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.697G>C (p.Gly233Arg)
HGVS:
  • NC_000002.12:g.165309443G>C
  • NG_008143.1:g.75042G>C
  • NM_001040142.2:c.697G>CMANE SELECT
  • NM_001040143.2:c.697+187G>C
  • NM_001371246.1:c.697+187G>C
  • NM_001371247.1:c.697G>C
  • NM_021007.3:c.697G>C
  • NP_001035232.1:p.Gly233Arg
  • NP_001358176.1:p.Gly233Arg
  • NP_066287.2:p.Gly233Arg
  • NC_000002.11:g.166165953G>C
  • NM_021007.2:c.697G>C
Protein change:
G233R
Links:
dbSNP: rs2105245106
NCBI 1000 Genomes Browser:
rs2105245106
Molecular consequence:
  • NM_001040143.2:c.697+187G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371246.1:c.697+187G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040142.2:c.697G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.697G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.697G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001817918GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 12, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001817918.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This substitution is predicted to be within the intracellular loop between the S4 and S5 transmembrane segments of the first homologous domain

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

Last Updated: Dec 24, 2023