NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) AND Brugada syndrome

Clinical significance:Uncertain significance (Last evaluated: Feb 5, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001037779.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)]

NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)

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.4716C>T (p.Gly1572=)
HGVS:
  • NC_000003.12:g.38554373G>A
  • NG_008934.1:g.100300C>T
  • NM_000335.5:c.4716C>TMANE SELECT
  • NM_001099404.2:c.4719C>T
  • NM_001099405.2:c.4665C>T
  • NM_001160160.2:c.4714+2C>T
  • NM_001160161.2:c.4557C>T
  • NM_001354701.2:c.4662C>T
  • NM_198056.3:c.4719C>T
  • NP_000326.2:p.Gly1572=
  • NP_001092874.1:p.Gly1573=
  • NP_001092875.1:p.Gly1555=
  • NP_001153633.1:p.Gly1519=
  • NP_001341630.1:p.Gly1554=
  • NP_932173.1:p.Gly1573=
  • NP_932173.1:p.Gly1573=
  • LRG_289t1:c.4719C>T
  • LRG_289:g.100300C>T
  • LRG_289p1:p.Gly1573=
  • NC_000003.11:g.38595864G>A
  • NM_198056.2:c.4719C>T
Links:
dbSNP: rs754221948
NCBI 1000 Genomes Browser:
rs754221948
Molecular consequence:
  • NM_001160160.2:c.4714+2C>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000335.5:c.4716C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099404.2:c.4719C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001099405.2:c.4665C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001160161.2:c.4557C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354701.2:c.4662C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_198056.3:c.4719C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Brugada syndrome
Synonyms:
Sudden unexpected nocturnal death syndrome; Sudden unexplained nocturnal death syndrome; Sudden Unexplained Death Syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015263; MedGen: C1142166; OMIM: PS601144

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001201210Invitaecriteria provided, single submitter
Uncertain significance
(Feb 5, 2020)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Exercise-induced ECG changes in Brugada syndrome.

Amin AS, de Groot EA, Ruijter JM, Wilde AA, Tan HL.

Circ Arrhythm Electrophysiol. 2009 Oct;2(5):531-9. doi: 10.1161/CIRCEP.109.862441. Epub 2009 Aug 24.

PubMed [citation]
PMID:
19843921

Epidural Analgesia with Ropivacaine during Labour in a Patient with a SCN5A Gene Mutation.

van der Knijff-van Dortmont AL, Dirckx M, Duvekot JJ, Roos-Hesselink JW, Gonzalez Candel A, van der Marel CD, Scoones GP, Adriaens VF, Dons-Sinke IJ.

Case Rep Anesthesiol. 2016;2016:9278409. doi: 10.1155/2016/9278409. Epub 2016 Sep 7.

PubMed [citation]
PMID:
27668095
PMCID:
PMC5030394
See all PubMed Citations (5)

Details of each submission

From Invitae, SCV001201210.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This sequence change affects codon 1573 of the SCN5A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN5A protein. This variant is present in population databases (rs754221948, ExAC 0.001%). This variant has been reported in an individual with Brugada syndrome and in a proband and her father, both with conduction disturbances (PMID: 19843921, 27668095). It has also been reported in an individual affected with bundle branch re-entrant ventricular tachycardia (PMID: 29759522). ClinVar contains an entry for this variant (Variation ID: 263423). Experimental studies have shown that this silent change causes a deleterious effect on SCN5A mRNA splicing (PMID: 23425522). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Dec 4, 2021

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