NM_000218.3(KCNQ1):c.1128+5G>A AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 24, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000182177.5

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1128+5G>A]

NM_000218.3(KCNQ1):c.1128+5G>A

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.1128+5G>A
HGVS:
  • NC_000011.10:g.2585312G>A
  • NG_008935.1:g.145322G>A
  • NM_000218.2:c.1128+5G>A
  • NM_000218.3:c.1128+5G>AMANE SELECT
  • NM_181798.1:c.747+5G>A
  • LRG_287t1:c.1128+5G>A
  • LRG_287t2:c.747+5G>A
  • LRG_287:g.145322G>A
  • NC_000011.9:g.2606542G>A
  • NC_000011.9:g.2606542G>A
Links:
dbSNP: rs76735093
NCBI 1000 Genomes Browser:
rs76735093
Molecular consequence:
  • NM_000218.2:c.1128+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000218.3:c.1128+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181798.1:c.747+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000234480GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 24, 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, SCV000234480.11

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

Description

In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 27707468, 25525159, 19716085)

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

Last Updated: Oct 25, 2021

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