NM_000335.5(SCN5A):c.149A>G (p.Glu50Gly) AND Cardiac arrhythmia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 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:: RCV004010929.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.149A>G (p.Glu50Gly)]

NM_000335.5(SCN5A):c.149A>G (p.Glu50Gly)

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.149A>G (p.Glu50Gly)

HGVS:

NC_000003.12:g.38633159T>C
NG_008934.1:g.21514A>G
NM_000335.5:c.149A>GMANE SELECT
NM_001099404.2:c.149A>G
NM_001099405.2:c.149A>G
NM_001160160.2:c.149A>G
NM_001160161.2:c.149A>G
NM_001354701.2:c.149A>G
NM_198056.3:c.149A>G
NP_000326.2:p.Glu50Gly
NP_001092874.1:p.Glu50Gly
NP_001092875.1:p.Glu50Gly
NP_001153632.1:p.Glu50Gly
NP_001153633.1:p.Glu50Gly
NP_001341630.1:p.Glu50Gly
NP_932173.1:p.Glu50Gly
LRG_289:g.21514A>G
NC_000003.11:g.38674650T>C

Protein change:

E50G

Links:

dbSNP: rs2125935570

NCBI 1000 Genomes Browser:

rs2125935570

Molecular consequence:

NM_000335.5:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099404.2:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099405.2:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160160.2:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160161.2:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354701.2:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198056.3:c.149A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Cardiac arrhythmia
Synonyms:: Cardiac rhythm disease
Identifiers:: EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675

Recent activity

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OsRALF17/19-3
OsRALF17/19-3

biosample
OsRALF17/19-2
OsRALF17/19-2

biosample
CBST3933.rev NICHD_XGC_tropThy1 Xenopus tropicalis cDNA clone IMAGE:8925217 3', ...
CBST3933.rev NICHD_XGC_tropThy1 Xenopus tropicalis cDNA clone IMAGE:8925217 3', mRNA sequence
gi|126551330|gnl|dbEST|45065204|gb| 845.1|

Nucleotide
Zoster Sine Herpete
Zoster Sine Herpete
HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.<br/>Year introduced: 2003

MeSH
LOC571384 [Danio rerio]
LOC571384 [Danio rerio]
Gene ID:571384

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004826675	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Sep 17, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004826675

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Sep 17, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	108544	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From All of Us Research Program, National Institutes of Health, SCV004826675.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

This missense variant replaces glutamic acid with glycine at codon 50 of the SCN5A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SCN5A-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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