NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 29, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000182227.3

Allele description [Variation Report for NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)]

NM_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)

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_181798.1(KCNQ1):c.1399C>T (p.Arg467Ter)
Other names:
p.R594*:CGA>TGA
HGVS:
  • NC_000011.10:g.2778023C>T
  • NG_008935.1:g.338033C>T
  • NM_000218.2:c.1780C>T
  • NM_181798.1:c.1399C>T
  • NP_000209.2:p.Arg594Ter
  • NP_861463.1:p.Arg467Ter
  • LRG_287t1:c.1780C>T
  • LRG_287t2:c.1399C>T
  • LRG_287:g.338033C>T
  • LRG_287p1:p.Arg594Ter
  • LRG_287p2:p.Arg467Ter
  • NC_000011.9:g.2799253C>T
Protein change:
R467*
Links:
dbSNP: rs794728537
NCBI 1000 Genomes Browser:
rs794728537
Molecular consequence:
  • NM_000218.2:c.1780C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_181798.1:c.1399C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000234530GeneDxcriteria provided, single submitter
Pathogenic
(Apr 29, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000234530.13

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

Description

Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Reported in ClinVar (ClinVar Variant ID# 200858; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 23098067, 23631430, 27479201, 31737537, 31541171, 26669661, 32686758)

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

Last Updated: Oct 6, 2021

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