NM_000335.5(SCN5A):c.57del (p.Glu19fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 26, 2014
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:: RCV000183138.1

Allele description [Variation Report for NM_000335.5(SCN5A):c.57del (p.Glu19fs)]

NM_000335.5(SCN5A):c.57del (p.Glu19fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

3p22.2

Genomic location:

Preferred name:

NM_000335.5(SCN5A):c.57del (p.Glu19fs)

HGVS:

NC_000003.12:g.38633251del
NG_008934.1:g.21422del
NM_000335.5:c.57delMANE SELECT
NM_001099404.2:c.57del
NM_001099405.2:c.57del
NM_001160160.2:c.57del
NM_001160161.2:c.57del
NM_001354701.2:c.57del
NM_198056.3:c.57del
NP_000326.2:p.Glu19fs
NP_001092874.1:p.Glu19fs
NP_001092875.1:p.Glu19fs
NP_001153632.1:p.Glu19fs
NP_001153633.1:p.Glu19fs
NP_001341630.1:p.Glu19fs
NP_932173.1:p.Glu19fs
LRG_289:g.21422del
NC_000003.11:g.38674742del
NM_198056.2:c.57delG
p.E19DfsX78

Protein change:

E19fs

Links:

dbSNP: rs794728902

NCBI 1000 Genomes Browser:

rs794728902

Molecular consequence:

NM_000335.5:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001099404.2:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001099405.2:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001160160.2:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001160161.2:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354701.2:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198056.3:c.57del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000235551	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Aug 26, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000235551

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Aug 26, 2014)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000235551.2

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

Description

c.57delG: p.Glu19AspfsX78 in exon 2 in the SCN5A gene (NM_198056.2). The normal sequence with the base(s) that are deleted in braces is: CGGGA{G}TCCCT. The c.57delG mutation in the SCN5A gene has not been published previously, to our knowledge. It is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. A large number of other frameshift and pathogenic loss-of-function mutations in this gene have been reported in patients with long QT and Brugada syndromes. Based on the ACMG recommendations, c.57delG is interpreted as an expected pathogenic sequence change. This variant has been observed to be paternally inherited. The variant is found in SCN5A panel(s).

#	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: Nov 5, 2022

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