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NM_001037.5(SCN1B):c.448+126G>T AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 21, 2017
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:
RCV000490202.1

Allele description [Variation Report for NM_001037.5(SCN1B):c.448+126G>T]

NM_001037.5(SCN1B):c.448+126G>T

Gene:
SCN1B:sodium voltage-gated channel beta subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_001037.5(SCN1B):c.448+126G>T
HGVS:
  • NC_000019.10:g.35033865G>T
  • NG_013359.1:g.8178G>T
  • NM_001037.5:c.448+126G>TMANE SELECT
  • NM_001321605.2:c.349+126G>T
  • NM_199037.5:c.574G>T
  • NP_950238.1:p.Ala192Ser
  • LRG_420t1:c.448+126G>T
  • LRG_420:g.8178G>T
  • NC_000019.9:g.35524769G>T
  • NM_001037.4:c.448+126G>T
Protein change:
A192S
Links:
dbSNP: rs746419159
NCBI 1000 Genomes Browser:
rs746419159
Molecular consequence:
  • NM_001037.5:c.448+126G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321605.2:c.349+126G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_199037.5:c.574G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000576671GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Apr 21, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000576671.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

A variant of uncertain significance has been identified in the SCN1B gene. The A192S variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A192S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species and in silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, the A192S variant occurs in an alternate transcript where no nearby missense variants have been reported in the Human Gene Mutation Database in association with arrhythmia (Stenson et al., 2014).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024