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NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) AND Congenital long QT syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000057687.11

Allele description [Variation Report for NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)]

NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)

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.514G>A (p.Val172Met)
HGVS:
  • NC_000011.10:g.2570664G>A
  • NG_008935.1:g.130674G>A
  • NM_000218.3:c.514G>AMANE SELECT
  • NM_001406836.1:c.514G>A
  • NM_001406837.1:c.244G>A
  • NM_181798.2:c.133G>A
  • NP_000209.2:p.Val172Met
  • NP_000209.2:p.Val172Met
  • NP_001393765.1:p.Val172Met
  • NP_001393766.1:p.Val82Met
  • NP_861463.1:p.Val45Met
  • NP_861463.1:p.Val45Met
  • LRG_287t1:c.514G>A
  • LRG_287t2:c.133G>A
  • LRG_287:g.130674G>A
  • LRG_287p1:p.Val172Met
  • LRG_287p2:p.Val45Met
  • NC_000011.9:g.2591894G>A
  • NM_000218.2:c.514G>A
  • NM_181798.1:c.133G>A
  • NR_040711.2:n.407G>A
  • P51787:p.Val172Met
Protein change:
V172M
Links:
UniProtKB: P51787#VAR_074940; dbSNP: rs199472694
NCBI 1000 Genomes Browser:
rs199472694
Molecular consequence:
  • NM_000218.3:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406836.1:c.514G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406837.1:c.244G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.2:c.133G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089206Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

Zareba W, Moss AJ, Sheu G, Kaufman ES, Priori S, Vincent GM, Towbin JA, Benhorin J, Schwartz PJ, Napolitano C, Hall WJ, Keating MT, Qi M, Robinson J, Andrews ML; International LQTS Registry, University of Rochester, Rochester, New York..

J Cardiovasc Electrophysiol. 2003 Nov;14(11):1149-53.

PubMed [citation]
PMID:
14678125

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
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089206.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:14678125;PMID:19716085). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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

Last Updated: Apr 20, 2024