NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 19, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766973.2

Allele description [Variation Report for NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His)]

NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His)
HGVS:
  • NC_000011.10:g.17612217G>A
  • NG_033191.2:g.69845G>A
  • NM_001277269.2:c.6215G>A
  • NM_001292063.2:c.6179G>AMANE SELECT
  • NP_001264198.1:p.Arg2072His
  • NP_001264198.1:p.Arg2072His
  • NP_001278992.1:p.Arg2060His
  • NC_000011.9:g.17633764G>A
  • NM_001277269.1:c.6215G>A
Protein change:
R2060H
Links:
dbSNP: rs188527711
NCBI 1000 Genomes Browser:
rs188527711
Molecular consequence:
  • NM_001277269.2:c.6215G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.6179G>A - 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
SCV000619639GeneDxcriteria provided, single submitter
Uncertain significance
(May 19, 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, SCV000619639.3

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously reported as pathogenic or benign in association with hearing loss to our knowledge; This variant is associated with the following publications: (PMID: 28050010)

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

Last Updated: Dec 4, 2021

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