NM_181798.1(KCNQ1):c.1504G>A (p.Gly502Ser) AND not specified

Clinical significance:Uncertain significance (Last evaluated: May 23, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001002570.1

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)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001160543ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(May 23, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001160543.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The KCNQ1 c.1885G>A; p.Gly629Ser variant (rs775608046) is reported in the literature in an individual affected with long QT syndrome, though it was not demonstrated to be disease-causing (Chae 2017). This variant is found in the general population with a low overall allele frequency of 0.005% (11/215064 alleles) in the Genome Aggregation Database. The glycine at codon 629 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, due to limited information, the clinical significance of the p.Gly629Ser variant is uncertain at this time. References: Chae H et al. Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory. Clin Chim Acta. 2017 Jan;464:128-135.

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

Last Updated: Oct 8, 2021

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