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NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 26, 2021)
Last evaluated:
Mar 22, 2021
Accession:
VCV000227796.5
Variation ID:
227796
Description:
single nucleotide variant
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NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln)

Allele ID
230156
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17635125 (GRCh38) GRCh38 UCSC
11: 17656672 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17635125G>A
NC_000011.9:g.17656672G>A
NG_033191.2:g.92753G>A
... more HGVS
Protein change
R2556Q, R2544Q
Other names
-
Canonical SPDI
NC_000011.10:17635124:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00276
Trans-Omics for Precision Medicine (TOPMed) 0.00333
1000 Genomes Project 0.00180
The Genome Aggregation Database (gnomAD) 0.00220
Exome Aggregation Consortium (ExAC) 0.00295
Links
ClinGen: CA5906154
dbSNP: rs76461792
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 6, 2017 RCV000215655.3
Likely benign 1 criteria provided, single submitter Mar 22, 2021 RCV001707557.1
Uncertain significance 1 criteria provided, single submitter Jan 1, 2020 RCV001254788.1

Clinical features observed in individuals with this variant

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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OTOG - - GRCh38
GRCh37
649 672

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270681.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Arg2556Gln in exon 45 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (292/61730) of … (more)
Likely benign
(Jan 20, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000705011.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 01, 2020)
criteria provided, single submitter
Method: case-control
Meniere disease
Moderate-to-severe flat hearing  (more...)
Allele origin: germline
Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)
Accession: SCV001167202.1
Submitted: (Feb 24, 2020)
Evidence details
Likely benign
(Mar 22, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000717858.2
Submitted: (Sep 26, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=OTOG - - - -

Text-mined citations for rs76461792...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021