NM_000335.5(SCN5A):c.3747C>G (p.Phe1249Leu) AND Brugada syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 19, 2019
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:: RCV001175239.5

Allele description [Variation Report for NM_000335.5(SCN5A):c.3747C>G (p.Phe1249Leu)]

NM_000335.5(SCN5A):c.3747C>G (p.Phe1249Leu)

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.3747C>G (p.Phe1249Leu)

HGVS:

NC_000003.12:g.38566499G>C
NG_008934.1:g.88174C>G
NM_000335.5:c.3747C>GMANE SELECT
NM_001099404.2:c.3750C>G
NM_001099405.2:c.3750C>G
NM_001160160.2:c.3747C>G
NM_001160161.2:c.3588C>G
NM_001354701.2:c.3747C>G
NM_198056.3:c.3750C>G
NP_000326.2:p.Phe1249Leu
NP_001092874.1:p.Phe1250Leu
NP_001092875.1:p.Phe1250Leu
NP_001153632.1:p.Phe1249Leu
NP_001153633.1:p.Phe1196Leu
NP_001341630.1:p.Phe1249Leu
NP_932173.1:p.Phe1250Leu
LRG_289t1:c.3750C>G
LRG_289:g.88174C>G
NC_000003.11:g.38607990G>C
NM_198056.2:c.3750C>G

Protein change:

F1196L

Links:

dbSNP: rs756102773

NCBI 1000 Genomes Browser:

rs756102773

Molecular consequence:

NM_000335.5:c.3747C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099404.2:c.3750C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099405.2:c.3750C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160160.2:c.3747C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001160161.2:c.3588C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354701.2:c.3747C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_198056.3:c.3750C>G - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001338806	Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	no assertion criteria provided (ACMG Guidelines, 2015)	Uncertain significance (Mar 19, 2019)	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

SCV001338806

Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

no assertion criteria provided

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 19, 2019)

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	yes	not provided	not provided	not provided	not provided	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 Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals, SCV001338806.1

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

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

Last Updated: Sep 29, 2024

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