NM_000218.2(KCNQ1):c.922-1G>C AND Long QT syndrome 1

Clinical significance:Pathogenic (Last evaluated: Sep 7, 1999)

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:
RCV000003282.2

Allele description [Variation Report for NM_000218.2(KCNQ1):c.922-1G>C]

NM_000218.2(KCNQ1):c.922-1G>C

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.922-1G>C
HGVS:
  • NC_000011.10:g.2583434G>C
  • NG_008935.1:g.143444G>C
  • NM_000218.2:c.922-1G>C
  • NM_181798.1:c.541-1G>C
  • LRG_287t1:c.922-1G>C
  • LRG_287t2:c.541-1G>C
  • LRG_287:g.143444G>C
  • NC_000011.9:g.2604664G>C
Links:
OMIM: 607542.0023; dbSNP: 387906290
NCBI 1000 Genomes Browser:
rs387906290
Molecular consequence:
  • NM_000218.2:c.922-1G>C - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Long QT syndrome 1 (LQT1)
Synonyms:
Romano-Ward syndrome
Identifiers:
MedGen: C0035828; Orphanet: 101016; Orphanet: 768; OMIM: 192500
Prevalence:
1-5 / 10 000 101016768

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000023440OMIMno assertion criteria providedPathogenic
(Sep 7, 1999)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

Murray A, Donger C, Fenske C, Spillman I, Richard P, Dong YB, Neyroud N, Chevalier P, Denjoy I, Carter N, Syrris P, Afzal AR, Patton MA, Guicheney P, Jeffery S.

Circulation. 1999 Sep 7;100(10):1077-84.

PubMed [citation]
PMID:
10477533

Details of each submission

From OMIM, SCV000023440.1

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

Description

Murray et al. (1999) examined a French LQTS (192500) family and found a novel G-to-C transversion at position 922 -1 in the splice acceptor site of intron 5 of the KCNQ1 gene. The effect on splicing efficiency was not determined.

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

Last Updated: Jul 27, 2016