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NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 11, 2018
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:
RCV002451237.2

Allele description [Variation Report for NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)]

NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)

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.250G>A (p.Glu84Lys)
HGVS:
  • NC_000019.10:g.35033541G>A
  • NG_013359.1:g.7854G>A
  • NM_001037.5:c.250G>AMANE SELECT
  • NM_001321605.2:c.151G>A
  • NM_199037.5:c.250G>A
  • NP_001028.1:p.Glu84Lys
  • NP_001308534.1:p.Glu51Lys
  • NP_950238.1:p.Glu84Lys
  • LRG_420t1:c.250G>A
  • LRG_420:g.7854G>A
  • LRG_420p1:p.Glu84Lys
  • NC_000019.9:g.35524445G>A
  • NM_001037.4:c.250G>A
  • NM_001037.5:c.250G>A
  • NM_199037.3:c.250G>A
Protein change:
E51K
Links:
dbSNP: rs1555720710
NCBI 1000 Genomes Browser:
rs1555720710
Molecular consequence:
  • NM_001037.5:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321605.2:c.151G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199037.5:c.250G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002738854Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 11, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002738854.2

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

Description

The p.E84K variant (also known as c.250G>A), located in coding exon 3 of the SCN1B gene, results from a G to A substitution at nucleotide position 250. The glutamic acid at codon 84 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved through mammals but not in all available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.

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

Last Updated: May 1, 2024