NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Oct 8, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000182257.3

Allele description [Variation Report for NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg)]

NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg)

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.296C>G (p.Pro99Arg)
Other names:
p.P99R:CCG>CGG
HGVS:
  • NC_000011.10:g.2445394C>G
  • NG_008935.1:g.5404C>G
  • NM_000218.2:c.296C>G
  • NM_000218.3:c.296C>GMANE SELECT
  • NP_000209.2:p.Pro99Arg
  • NP_000209.2:p.Pro99Arg
  • LRG_287t1:c.296C>G
  • LRG_287:g.5404C>G
  • LRG_287p1:p.Pro99Arg
  • NC_000011.9:g.2466624C>G
  • NC_000011.9:g.2466624C>G
Protein change:
P99R
Links:
dbSNP: rs370435862
NCBI 1000 Genomes Browser:
rs370435862
Molecular consequence:
  • NM_000218.2:c.296C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000218.3:c.296C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000234560GeneDxcriteria provided, single submitter
Uncertain significance
(Oct 8, 2019)
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, SCV000234560.12

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

Description

Identified in one case of sudden unexplained death in published literature, a 2 month-old female who died while sleeping (Wang et al., 2014); Identified independently of additional cardiogenetic variants in individuals referred for arrhythmia genetic testing at GeneDx, but segregation data is limited or absent at this time; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28316956, 24631775, 29247119)

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

Last Updated: Oct 25, 2021

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