NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) AND Long QT syndrome 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 10, 2016)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000477954.1

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:
Long QT syndrome 1 (LQT1)
Synonyms:
Romano-Ward syndrome
Identifiers:
MedGen: C0035828; Orphanet: 101016; Orphanet: 768; OMIM: 192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000536891Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqno assertion criteria providedLikely pathogenic
(Mar 10, 2016)
paternalresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot providednot providednot providednot providedresearch

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

Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Giudicessi JR, Kapplinger JD, Tester DJ, Alders M, Salisbury BA, Wilde AA, Ackerman MJ.

Circ Cardiovasc Genet. 2012 Oct 1;5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. Epub 2012 Sep 4.

PubMed [citation]
PMID:
22949429
PMCID:
PMC3705705

Details of each submission

From Division of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeq, SCV000536891.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 6, 2018