U.S. flag

An official website of the United States government

NM_001040142.2(SCN2A):c.1076A>G (p.Asn359Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 1, 2021
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:
RCV001776515.2

Allele description [Variation Report for NM_001040142.2(SCN2A):c.1076A>G (p.Asn359Ser)]

NM_001040142.2(SCN2A):c.1076A>G (p.Asn359Ser)

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.1076A>G (p.Asn359Ser)
HGVS:
  • NC_000002.12:g.165313661A>G
  • NG_008143.1:g.79260A>G
  • NM_001040142.2:c.1076A>GMANE SELECT
  • NM_001040143.2:c.1076A>G
  • NM_001371246.1:c.1076A>G
  • NM_001371247.1:c.1076A>G
  • NM_021007.3:c.1076A>G
  • NP_001035232.1:p.Asn359Ser
  • NP_001035233.1:p.Asn359Ser
  • NP_001358175.1:p.Asn359Ser
  • NP_001358176.1:p.Asn359Ser
  • NP_066287.2:p.Asn359Ser
  • NC_000002.11:g.166170171A>G
  • NM_021007.2:c.1076A>G
Protein change:
N359S
Links:
dbSNP: rs746393224
NCBI 1000 Genomes Browser:
rs746393224
Molecular consequence:
  • NM_001040142.2:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001040143.2:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371246.1:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001371247.1:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021007.3:c.1076A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002013149GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Aug 1, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002013149.2

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

Description

Not observed at a significant frequency 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; Substitution predicted to be within the extracellular loop between the S5 and S6 transmembrane segments of the first homologous domain; Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 24, 2023