NM_181798.1(KCNQ1):c.747+5G>A AND Hearing impairment

Clinical significance:Uncertain significance (Last evaluated: Apr 12, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001375390.1

Allele description [Variation Report for NM_181798.1(KCNQ1):c.747+5G>A]

NM_181798.1(KCNQ1):c.747+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_181798.1(KCNQ1):c.747+5G>A
HGVS:
  • NC_000011.10:g.2585312G>A
  • NG_008935.1:g.145322G>A
  • NM_000218.2:c.1128+5G>A
  • 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
Links:
dbSNP: rs76735093
NCBI 1000 Genomes Browser:
rs76735093
Molecular consequence:
  • NM_000218.2: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)

Name:
Hearing impairment
Synonyms:
Congenital hearing loss; Hearing defect; Hypoacusis
Identifiers:
MONDO: MONDO:0005365; MedGen: C1384666; Human Phenotype Ontology: HP:0000365

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001571823Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Centercriteria provided, single submitter
Uncertain significance
(Apr 12, 2021)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics..

Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20. Erratum in: Genet Med. 2017 May;19(5):606.

PubMed [citation]
PMID:
23788249
PMCID:
PMC3727274

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]
PMID:
19716085
PMCID:
PMC3049907
See all PubMed Citations (4)

Details of each submission

From Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center, SCV001571823.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

PM2_Supporting, BP4_Supporting

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

Last Updated: Oct 8, 2021

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