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NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 23, 2015
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:
RCV000253252.5

Allele description

NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter)

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.564G>A (p.Trp188Ter)
HGVS:
  • NC_000011.10:g.2570714G>A
  • NG_008935.1:g.130724G>A
  • NM_000218.3:c.564G>AMANE SELECT
  • NM_001406836.1:c.564G>A
  • NM_001406837.1:c.294G>A
  • NM_181798.2:c.183G>A
  • NP_000209.2:p.Trp188Ter
  • NP_000209.2:p.Trp188Ter
  • NP_001393765.1:p.Trp188Ter
  • NP_001393766.1:p.Trp98Ter
  • NP_861463.1:p.Trp61Ter
  • NP_861463.1:p.Trp61Ter
  • LRG_287t1:c.564G>A
  • LRG_287t2:c.183G>A
  • LRG_287:g.130724G>A
  • LRG_287p1:p.Trp188Ter
  • LRG_287p2:p.Trp61Ter
  • NC_000011.9:g.2591944G>A
  • NM_000218.2:c.564G>A
  • NM_181798.1:c.183G>A
  • NR_040711.2:n.457G>A
Protein change:
W188*
Links:
dbSNP: rs530612385
NCBI 1000 Genomes Browser:
rs530612385
Molecular consequence:
  • NM_000218.3:c.564G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406836.1:c.564G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001406837.1:c.294G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181798.2:c.183G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000319040Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Mar 23, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000319040.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.W188* pathogenic mutation (also known as c.564G>A), located in coding exon 3 of the KCNQ1 gene, results from a G to A substitution at nucleotide position 564. This changes the amino acid at codon 188 from a tryptophan to a stop codon. In a study of long QT syndrome clinical genetic testing, this nonsense pathogenic mutation was reported in one patient (Kapplinger JD et al. Heart Rhythm. 2009;6(9):1297-303). In addition, nonsense mutations in the KCNQ1 gene have been described in multiple individuals with long QT syndrome and arrhythmias, demonstrating truncation mutations are pathogenic for disease. In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024