NM_001292063.2(OTOG):c.1793G>A (p.Arg598His) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000612114.1

Allele description [Variation Report for NM_001292063.2(OTOG):c.1793G>A (p.Arg598His)]

NM_001292063.2(OTOG):c.1793G>A (p.Arg598His)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.1793G>A (p.Arg598His)
HGVS:
  • NC_000011.10:g.17570228G>A
  • NG_033191.2:g.27856G>A
  • NM_001277269.1:c.1829G>A
  • NM_001277269.2:c.1829G>A
  • NM_001292063.2:c.1793G>AMANE SELECT
  • NP_001264198.1:p.Arg610His
  • NP_001264198.1:p.Arg610His
  • NP_001278992.1:p.Arg598His
  • NC_000011.9:g.17591775G>A
  • NC_000011.9:g.17591775G>A
Protein change:
R598H
Links:
dbSNP: rs1032491736
NCBI 1000 Genomes Browser:
rs1032491736
Molecular consequence:
  • NM_001277269.1:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277269.2:c.1829G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.1793G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000731448Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Feb 16, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000731448.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Arg610His variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 3/67514 European chromos omes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.or g). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the p.Arg610His vari ant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Oct 25, 2021

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