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NM_000218.3(KCNQ1):c.504del (p.Thr169fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2019
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:
RCV002336181.1

Allele description

NM_000218.3(KCNQ1):c.504del (p.Thr169fs)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.504del (p.Thr169fs)
HGVS:
  • NC_000011.10:g.2570654del
  • NG_008935.1:g.130664del
  • NM_000218.3:c.504delMANE SELECT
  • NM_001406836.1:c.504delG
  • NM_001406837.1:c.234delG
  • NM_181798.2:c.123delG
  • NP_000209.2:p.Thr169Argfs
  • NP_000209.2:p.Thr169fs
  • NP_000209.2:p.Thr169fs
  • NP_001393765.1:p.Thr169Argfs
  • NP_001393766.1:p.Thr79Argfs
  • NP_861463.1:p.Thr42Argfs
  • NP_861463.1:p.Thr42fs
  • LRG_287t1:c.504del
  • LRG_287t2:c.123del
  • LRG_287:g.130664del
  • LRG_287p1:p.Thr169fs
  • LRG_287p2:p.Thr42fs
  • NC_000011.9:g.2591882del
  • NC_000011.9:g.2591884del
  • NM_000218.2:c.504del
  • NM_000218.2:c.504delG
  • NM_181798.1:c.123del
  • NR_040711.2:n.397delG
Protein change:
T169fs
Links:
dbSNP: rs397508114
NCBI 1000 Genomes Browser:
rs397508114
Molecular consequence:
  • NM_000218.3:c.504del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406836.1:c.504delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406837.1:c.234delG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181798.2:c.123delG - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV002641868Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Jan 1, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X.

Wei J, Fish FA, Myerburg RJ, Roden DM, George AL Jr.

Hum Mutat. 2000 Apr;15(4):387-8.

PubMed [citation]
PMID:
10737999

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]
PMID:
19716085
PMCID:
PMC3049907

Details of each submission

From Ambry Genetics, SCV002641868.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The c.504delG pathogenic mutation, located in coding exon 3 of the KCNQ1 gene, results from a deletion of one nucleotide at nucleotide position 504, causing a translational frameshift with a predicted alternate stop codon (p.T169Rfs*68). This alteration has been reported in patients with long QT syndrome (Wei J et al. Hum. Mutat., 2000 Apr;15:387-8; Kapplinger JD et al. Heart Rhythm, 2009 Sep;6:1297-303). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Feb 14, 2024