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NM_005472.5(KCNE3):c.278_279del (p.His93fs) AND Brugada syndrome 6

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 27, 2023
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:
RCV003876441.1

Allele description [Variation Report for NM_005472.5(KCNE3):c.278_279del (p.His93fs)]

NM_005472.5(KCNE3):c.278_279del (p.His93fs)

Gene:
KCNE3:potassium voltage-gated channel subfamily E regulatory subunit 3 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q13.4
Genomic location:
Preferred name:
NM_005472.5(KCNE3):c.278_279del (p.His93fs)
HGVS:
  • NC_000011.10:g.74457285_74457286del
  • NG_011833.1:g.15270_15271del
  • NM_005472.5:c.278_279delMANE SELECT
  • NP_005463.1:p.His93Argfs
  • NP_005463.1:p.His93fs
  • LRG_439t1:c.278_279del
  • LRG_439:g.15270_15271del
  • LRG_439p1:p.His93Argfs
  • NC_000011.9:g.74168330_74168331del
  • NM_005472.4:c.278_279delAT
Protein change:
H93fs
Molecular consequence:
  • NM_005472.5:c.278_279del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Brugada syndrome 6 (BRGDA6)
Identifiers:
MONDO: MONDO:0013145; MedGen: C2751089; Orphanet: 130; OMIM: 613119

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004680056Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Nov 27, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV004680056.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change results in a frameshift in the KCNE3 gene (p.His93Argfs*54). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the KCNE3 protein and extend the protein by 42 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KCNE3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Mar 5, 2024