NM_181798.1(KCNQ1):c.1504G>A (p.Gly502Ser) AND Arrhythmia

Clinical significance:Uncertain significance (Last evaluated: Jan 20, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001177410.2

Allele description [Variation Report for NM_181798.1(KCNQ1):c.1504G>A (p.Gly502Ser)]

NM_181798.1(KCNQ1):c.1504G>A (p.Gly502Ser)

Genes:
KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_181798.1(KCNQ1):c.1504G>A (p.Gly502Ser)
HGVS:
  • NC_000011.10:g.2847857G>A
  • NG_008935.1:g.407867G>A
  • NM_000218.2:c.1885G>A
  • NM_181798.1:c.1504G>A
  • NP_000209.2:p.Gly629Ser
  • NP_861463.1:p.Gly502Ser
  • LRG_287t1:c.1885G>A
  • LRG_287t2:c.1504G>A
  • LRG_287:g.407867G>A
  • LRG_287p1:p.Gly629Ser
  • LRG_287p2:p.Gly502Ser
  • NC_000011.9:g.2869087G>A
  • p.(Gly629Ser)
Protein change:
G502S
Links:
dbSNP: rs775608046
NCBI 1000 Genomes Browser:
rs775608046
Molecular consequence:
  • NM_000218.2:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181798.1:c.1504G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmia
Synonyms:
Abnormal electrocardiogram; Arrhythmias; Cardiac arrhythmias; See all synonyms [MedGen]
Identifiers:
EFO: EFO_0004269; MedGen: C0855329; Human Phenotype Ontology: HP:0011675

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001341614Color Health, Inccriteria provided, single submitter
Uncertain significance
(Jan 20, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Health, Inc, SCV001341614.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This missense variant replaces glycine with serine at codon 629 of the KCNQ1 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in one individual affected with long QT syndrome (PMID 27871843). This variant has been identified in 11/215064 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2021

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