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NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys) AND SCN5A-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 9, 2024
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:
RCV004542728.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys)]

NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys)
HGVS:
  • NC_000003.12:g.38633098A>C
  • NG_008934.1:g.21575T>G
  • NM_000335.5:c.210T>GMANE SELECT
  • NM_001099404.2:c.210T>G
  • NM_001099405.2:c.210T>G
  • NM_001160160.2:c.210T>G
  • NM_001160161.2:c.210T>G
  • NM_001354701.2:c.210T>G
  • NM_198056.3:c.210T>G
  • NP_000326.2:p.Asn70Lys
  • NP_001092874.1:p.Asn70Lys
  • NP_001092875.1:p.Asn70Lys
  • NP_001153632.1:p.Asn70Lys
  • NP_001153633.1:p.Asn70Lys
  • NP_001341630.1:p.Asn70Lys
  • NP_932173.1:p.Asn70Lys
  • NP_932173.1:p.Asn70Lys
  • LRG_289t1:c.210T>G
  • LRG_289:g.21575T>G
  • LRG_289p1:p.Asn70Lys
  • NC_000003.11:g.38674589A>C
  • NM_001099404.1:c.210T>G
  • NM_198056.2:c.210T>G
  • Q14524:p.Asn70Lys
Protein change:
N70K
Links:
UniProtKB: Q14524#VAR_074314; dbSNP: rs199473050
NCBI 1000 Genomes Browser:
rs199473050
Molecular consequence:
  • NM_000335.5:c.210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.210T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SCN5A-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004767001PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 9, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004767001.2

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

Description

The SCN5A c.210T>G variant is predicted to result in the amino acid substitution p.Asn70Lys. This variant was reported in an individual with Brugada syndrome or arrhythmia (Kapplinger et al. 2010. PubMed ID: 20129283; Supplemental File 2, van Lint et al. 2019. PubMed ID: 30847666). Functional studies found this variant displays some dominant negative effect (Hoshi et al. 2014. PubMed ID: 24573164). This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 3, 2024