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NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) AND Long QT syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 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:
RCV001102798.12

Allele description [Variation Report for NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)]

NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)
HGVS:
  • NC_000011.10:g.2572933G>A
  • NG_008935.1:g.132943G>A
  • NM_000218.3:c.868G>AMANE SELECT
  • NM_001406836.1:c.868G>A
  • NM_001406837.1:c.598G>A
  • NM_181798.2:c.487G>A
  • NP_000209.2:p.Glu290Lys
  • NP_000209.2:p.Glu290Lys
  • NP_001393765.1:p.Glu290Lys
  • NP_001393766.1:p.Glu200Lys
  • NP_861463.1:p.Glu163Lys
  • NP_861463.1:p.Glu163Lys
  • LRG_287t1:c.868G>A
  • LRG_287t2:c.487G>A
  • LRG_287:g.132943G>A
  • LRG_287p1:p.Glu290Lys
  • LRG_287p2:p.Glu163Lys
  • NC_000011.9:g.2594163G>A
  • NM_000218.2:c.868G>A
  • NM_181798.1:c.487G>A
  • NR_040711.2:n.761G>A
  • P51787:p.Glu290Lys
Protein change:
E163K
Links:
UniProtKB: P51787#VAR_068300; dbSNP: rs199473464
NCBI 1000 Genomes Browser:
rs199473464
Molecular consequence:
  • NM_000218.3:c.868G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.868G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.598G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.487G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 1 (LQT1)
Identifiers:
MONDO: MONDO:0100316; MedGen: C4551647; Orphanet: 101016; Orphanet: 768; OMIM: 192500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001259488Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 28, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Tester DJ, Will ML, Haglund CM, Ackerman MJ.

Heart Rhythm. 2005 May;2(5):507-17.

PubMed [citation]
PMID:
15840476

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001259488.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Oct 13, 2024