NM_174934.4(SCN4B):c.55_56delinsGA (p.Leu19Asp) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 24, 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:: RCV002351665.2

Allele description [Variation Report for NM_174934.4(SCN4B):c.55_56delinsGA (p.Leu19Asp)]

NM_174934.4(SCN4B):c.55_56delinsGA (p.Leu19Asp)

Gene:

SCN4B:sodium voltage-gated channel beta subunit 4 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

11q23.3

Genomic location:

Preferred name:

NM_174934.4(SCN4B):c.55_56delinsGA (p.Leu19Asp)

HGVS:

NC_000011.10:g.118152618_118152619delinsTC
NG_011710.1:g.5297_5298delinsGA
NM_001142348.2:c.55_56delinsGA
NM_174934.4:c.55_56delinsGAMANE SELECT
NP_001135820.1:p.Leu19Asp
NP_777594.1:p.Leu19Asp
NP_777594.1:p.Leu19Asp
LRG_330t1:c.55_56delCTinsGA
LRG_330:g.5297_5298delinsGA
LRG_330p1:p.Leu19Asp
NC_000011.9:g.118023333_118023334delinsTC
NM_174934.3:c.55_56delCTinsGA

Protein change:

L19D

Molecular consequence:

NM_001142348.2:c.55_56delinsGA - missense variant - [Sequence Ontology: SO:0001583]
NM_174934.4:c.55_56delinsGA - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002651060	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 24, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002651060

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 24, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002651060.2

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

Description

The c.55_56delCTinsGA variant, located in coding exon 1 of the SCN4B gene, results from an in-frame deletion of CT and insertion of GA at nucleotide positions 55 to 56. This results in the substitution of the leucine residue for an aspartic acid residue at codon 19, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: May 1, 2024

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