NM_000335.5(SCN5A):c.5128del (p.Ala1710fs) AND Heart block, nonprogressive

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 1, 1999
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000009976.2

Allele description [Variation Report for NM_000335.5(SCN5A):c.5128del (p.Ala1710fs)]

NM_000335.5(SCN5A):c.5128del (p.Ala1710fs)

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.5128del (p.Ala1710fs)

HGVS:

NC_000003.12:g.38551242del
NG_008934.1:g.103432del
NM_000335.5:c.5128delMANE SELECT
NM_001099404.2:c.5131del
NM_001099405.2:c.5077del
NM_001160160.2:c.5032del
NM_001160161.2:c.4969del
NM_001354701.2:c.5074del
NM_198056.3:c.5131del
NP_000326.2:p.Ala1710fs
NP_001092874.1:p.Ala1711fs
NP_001092875.1:p.Ala1693fs
NP_001153632.1:p.Ala1678fs
NP_001153633.1:p.Ala1657fs
NP_001341630.1:p.Ala1692fs
NP_932173.1:p.Ala1711fs
NP_932173.1:p.Ala1711fs
LRG_289t1:c.5131del
LRG_289:g.103432del
LRG_289p1:p.Ala1711fs
NC_000003.11:g.38592733del
NM_198056.2:c.5131del

Note:

NCBI staff reviewed the sequence information reported in PubMed 10471492 to determine the location of this allele on current reference sequence.

Protein change:

A1657fs

Links:

OMIM: 600163.0010; dbSNP: rs397514448

NCBI 1000 Genomes Browser:

rs397514448

Molecular consequence:

NM_000335.5:c.5128del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001099404.2:c.5131del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001099405.2:c.5077del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001160160.2:c.5032del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001160161.2:c.4969del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354701.2:c.5074del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_198056.3:c.5131del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Heart block, nonprogressive
Identifiers:: MedGen: C1861983

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030197	OMIM	no assertion criteria provided	Pathogenic (Sep 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030197

OMIM

no assertion criteria provided

Pathogenic
(Sep 1, 1999)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Cardiac conduction defects associate with mutations in SCN5A.

Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H.

Nat Genet. 1999 Sep;23(1):20-1. No abstract available.

PubMed [citation]

PMID:: 10471492

Details of each submission

From OMIM, SCV000030197.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a Dutch family with asymptomatic first-degree atrioventricular block associated with right bundle branch block from birth, without apparent progression (see 113900), Schott et al. (1999) identified a 1-bp deletion (G) at nucleotide 5280 of the SCN5A gene, resulting in a frameshift predicted to cause a premature stop codon.

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

Last Updated: Jun 9, 2024

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