NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) AND Congenital long QT syndrome

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000057619.3

Allele description

NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe)

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_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe)
HGVS:
  • NC_000011.10:g.2776997C>T
  • NG_008935.1:g.337007C>T
  • NM_000218.2:c.1697C>T
  • NM_181798.1:c.1316C>T
  • NP_000209.2:p.Ser566Phe
  • NP_861463.1:p.Ser439Phe
  • LRG_287t1:c.1697C>T
  • LRG_287t2:c.1316C>T
  • LRG_287:g.337007C>T
  • LRG_287p1:p.Ser566Phe
  • LRG_287p2:p.Ser439Phe
  • NC_000011.9:g.2798227C>T
  • P51787:p.Ser566Phe
Protein change:
S439F
Links:
UniProtKB: P51787#VAR_009932; dbSNP: rs199472804
NCBI 1000 Genomes Browser:
rs199472804
Molecular consequence:
  • NM_000218.2:c.1697C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome
Synonyms:
Familial long QT syndrome
Identifiers:
MedGen: C1141890; Orphanet: 768

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000089138Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT.

Circulation. 2000 Sep 5;102(10):1178-85.

PubMed [citation]
PMID:
10973849

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
See all PubMed Citations (6)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089138.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (6)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:10973849;PMID:14678125;PMID:19716085;PMID:19841300;PMID:17470695). 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: Sep 13, 2018