NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) AND Atrial fibrillation

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:
RCV000057674.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)]

NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)

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.421G>A (p.Val141Met)
HGVS:
  • NC_000011.10:g.2527962G>A
  • NG_008935.1:g.87972G>A
  • NM_000218.2:c.421G>A
  • NM_000218.3:c.421G>AMANE SELECT
  • NM_181798.1:c.40G>A
  • NP_000209.2:p.Val141Met
  • NP_000209.2:p.Val141Met
  • NP_861463.1:p.Val14Met
  • LRG_287t1:c.421G>A
  • LRG_287t2:c.40G>A
  • LRG_287:g.87972G>A
  • LRG_287p1:p.Val141Met
  • LRG_287p2:p.Val14Met
  • NC_000011.9:g.2549192G>A
Protein change:
V141M; VAL141MET
Links:
OMIM: 607542.0045; dbSNP: rs199472687
NCBI 1000 Genomes Browser:
rs199472687
Molecular consequence:
  • NM_000218.2:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000218.3:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.40G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atrial fibrillation
Identifiers:
EFO: EFO_0000275; MONDO: MONDO:0004981; MedGen: C0004238; Human Phenotype Ontology: HP:0005110

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000089193Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

PubMed (5)
[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

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

Hong K, Piper DR, Diaz-Valdecantos A, Brugada J, Oliva A, Burashnikov E, Santos-de-Soto J, Grueso-Montero J, Diaz-Enfante E, Brugada P, Sachse F, Sanguinetti MC, Brugada R.

Cardiovasc Res. 2005 Dec 1;68(3):433-40. Epub 2005 Aug 18.

PubMed [citation]
PMID:
16109388

Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.

Restier L, Cheng L, Sanguinetti MC.

J Physiol. 2008 Sep 1;586(17):4179-91. doi: 10.1113/jphysiol.2008.157511. Epub 2008 Jul 3.

PubMed [citation]
PMID:
18599533
PMCID:
PMC2652179
See all PubMed Citations (5)

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000089193.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)

Description

This variant has been reported as associated with Atrial fibrillation in the following publications (PMID:16109388;PMID:18599533;PMID:22250012;PMID:17999538). 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: Oct 25, 2021

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