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NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met) AND Brugada syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 2017
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:
RCV001144668.12

Allele description [Variation Report for NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met)]

NM_000335.5(SCN5A):c.4054G>A (p.Val1352Met)

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.4054G>A (p.Val1352Met)
Other names:
p.V1353M:GTG>ATG
HGVS:
  • NC_000003.12:g.38560335C>T
  • NG_008934.1:g.94338G>A
  • NM_000335.5:c.4054G>AMANE SELECT
  • NM_001099404.2:c.4057G>A
  • NM_001099405.2:c.4057G>A
  • NM_001160160.2:c.4054G>A
  • NM_001160161.2:c.3895G>A
  • NM_001354701.2:c.4054G>A
  • NM_198056.3:c.4057G>A
  • NP_000326.2:p.Val1352Met
  • NP_001092874.1:p.Val1353Met
  • NP_001092875.1:p.Val1353Met
  • NP_001153632.1:p.Val1352Met
  • NP_001153633.1:p.Val1299Met
  • NP_001341630.1:p.Val1352Met
  • NP_932173.1:p.Val1353Met
  • NP_932173.1:p.Val1353Met
  • LRG_289t1:c.4057G>A
  • LRG_289:g.94338G>A
  • LRG_289p1:p.Val1353Met
  • NC_000003.11:g.38601826C>T
  • NM_198056.2:c.4057G>A
  • Q14524:p.Val1353Met
Protein change:
V1299M
Links:
UniProtKB: Q14524#VAR_074428; dbSNP: rs199473233
NCBI 1000 Genomes Browser:
rs199473233
Molecular consequence:
  • NM_000335.5:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.4057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.4057G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.3895G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.4054G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.4057G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Brugada syndrome 1 (BRGDA1)
Synonyms:
Right bundle branch block, ST segment elevation, and sudden death syndrome
Identifiers:
MONDO: MONDO:0011001; MedGen: C4551804; Orphanet: 130; OMIM: 601144

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001305281Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, et al.

Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.

PubMed [citation]
PMID:
20129283
PMCID:
PMC2822446

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.

Walsh R, Peters NS, Cook SA, Ware JS.

J Med Genet. 2014 Jan;51(1):35-44. doi: 10.1136/jmedgenet-2013-101917. Epub 2013 Oct 17.

PubMed [citation]
PMID:
24136861
PMCID:
PMC3888601

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001305281.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Sep 16, 2024