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NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 7, 2023
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:
RCV003162458.9

Allele description [Variation Report for NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)]

NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)

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.3715G>C (p.Glu1239Gln)
HGVS:
  • NC_000003.12:g.38566531C>G
  • NG_008934.1:g.88142G>C
  • NM_000335.5:c.3715G>CMANE SELECT
  • NM_001099404.2:c.3718G>C
  • NM_001099405.2:c.3718G>C
  • NM_001160160.2:c.3715G>C
  • NM_001160161.2:c.3556G>C
  • NM_001354701.2:c.3715G>C
  • NM_198056.3:c.3718G>C
  • NP_000326.2:p.Glu1239Gln
  • NP_001092874.1:p.Glu1240Gln
  • NP_001092875.1:p.Glu1240Gln
  • NP_001153632.1:p.Glu1239Gln
  • NP_001153633.1:p.Glu1186Gln
  • NP_001341630.1:p.Glu1239Gln
  • NP_932173.1:p.Glu1240Gln
  • NP_932173.1:p.Glu1240Gln
  • LRG_289t1:c.3718G>C
  • LRG_289:g.88142G>C
  • LRG_289p1:p.Glu1240Gln
  • NC_000003.11:g.38608022C>G
  • NM_198056.2:c.3718G>C
  • Q14524:p.Glu1240Gln
Protein change:
E1186Q
Links:
UniProtKB: Q14524#VAR_026371; dbSNP: rs199473211
NCBI 1000 Genomes Browser:
rs199473211
Molecular consequence:
  • NM_000335.5:c.3715G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.3718G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.3718G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.3715G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.3556G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.3715G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.3718G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003903606Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 7, 2023) 		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

Natural history of Brugada syndrome: insights for risk stratification and management.

Priori SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Giordano U, Bloise R, Giustetto C, De Nardis R, Grillo M, Ronchetti E, Faggiano G, Nastoli J.

Circulation. 2002 Mar 19;105(11):1342-7.

PubMed [citation]
PMID:
11901046

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Kapplinger JD, Giudicessi JR, Ye D, Tester DJ, Callis TE, Valdivia CR, Makielski JC, Wilde AA, Ackerman MJ.

Circ Cardiovasc Genet. 2015 Aug;8(4):582-95. doi: 10.1161/CIRCGENETICS.114.000831. Epub 2015 Apr 22.

PubMed [citation]
PMID:
25904541
PMCID:
PMC4878676

Details of each submission

From Ambry Genetics, SCV003903606.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 25, 2025