NM_000335.5(SCN5A):c.2298dup (p.Lys767fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 30, 2018
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:: RCV003655276.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.2298dup (p.Lys767fs)]

NM_000335.5(SCN5A):c.2298dup (p.Lys767fs)

Gene:

SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000335.5(SCN5A):c.2298dup (p.Lys767fs)

HGVS:

NC_000003.12:g.38587538dup
NG_008934.1:g.67135dup
NM_000335.5:c.2298dupMANE SELECT
NM_001099404.2:c.2298dup
NM_001099405.2:c.2298dup
NM_001160160.2:c.2298dup
NM_001160161.2:c.2298dup
NM_001354701.2:c.2298dup
NM_198056.3:c.2298dup
NP_000326.2:p.Lys767fs
NP_001092874.1:p.Lys767fs
NP_001092875.1:p.Lys767fs
NP_001153632.1:p.Lys767fs
NP_001153633.1:p.Lys767fs
NP_001341630.1:p.Lys767fs
NP_932173.1:p.Lys767fs
NP_932173.1:p.Lys767fs
LRG_289t1:c.2298dup
LRG_289:g.67135dup
LRG_289p1:p.Lys767fs
NC_000003.11:g.38629028_38629029insG
NC_000003.11:g.38629029dup
NM_198056.2:c.2298dup

Protein change:

K767fs

Links:

dbSNP: rs1575773471

NCBI 1000 Genomes Browser:

rs1575773471

Molecular consequence:

NM_000335.5:c.2298dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001099404.2:c.2298dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001099405.2:c.2298dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001160160.2:c.2298dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001160161.2:c.2298dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354701.2:c.2298dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198056.3:c.2298dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000951143	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 30, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 20129283, 22789973, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000951143

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 30, 2018)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Brugada syndrome 2012.

Berne P, Brugada J.

Circ J. 2012;76(7):1563-71. Epub 2012 Jun 13. Review.

PubMed [citation]

PMID:: 22789973

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000951143.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Lys767Glnfs*26) in the SCN5A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SCN5A are known to be pathogenic (PMID: 20129283, 22789973). This variant has not been reported in the literature in individuals with SCN5A-related conditions.

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

Last Updated: Oct 13, 2024

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