NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 13, 2021
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:: RCV002351722.2

Allele description [Variation Report for NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)]

NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)

Gene:

SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

19q13.11

Genomic location:

Preferred name:

NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)

HGVS:

NC_000019.10:g.35039216AGA[1]
NG_013359.1:g.13529AGA[1]
NM_001037.5:c.548AGA[1]MANE SELECT
NM_001321605.2:c.449AGA[1]
NP_001028.1:p.Lys184del
NP_001308534.1:p.Lys151del
LRG_420t1:c.548AGA[1]
LRG_420:g.13529AGA[1]
LRG_420p1:p.Lys184del
NC_000019.9:g.35530119_35530121del
NC_000019.9:g.35530120AGA[1]
NM_001037.4:c.551_553delAGA

Protein change:

K151del

Molecular consequence:

NM_001037.5:c.548AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001321605.2:c.449AGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002648673	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 13, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002648673

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 13, 2021)

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, SCV002648673.2

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

Description

The c.551_553delAGA variant (also known as p.K184del) is located in coding exon 4 of the SCN1B gene. This variant results from an in-frame AGA deletion at nucleotide positions 551 to 553. This results in the in-frame deletion of a lysine at codon 184. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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: Sep 29, 2024

ClinVar

Relating variation to medicine