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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 23, 2021)
Last evaluated:
May 19, 2021
Accession:
VCV000451001.4
Variation ID:
451001
Description:
single nucleotide variant
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NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His)

Allele ID
444762
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17612217 (GRCh38) GRCh38 UCSC
11: 17633764 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.17633764G>A
NM_001277269.1:c.6215G>A NP_001264198.1:p.Arg2072His missense
NC_000011.10:g.17612217G>A
... more HGVS
Protein change
R2072H, R2060H
Other names
-
Canonical SPDI
NC_000011.10:17612216:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (A)

Allele frequency
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00081
Links
ClinGen: CA5906000
dbSNP: rs188527711
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 10, 2017 RCV000523753.3
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000763723.1
Uncertain significance 1 criteria provided, single submitter May 19, 2021 RCV000766973.2
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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
695 718

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 18b
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894607.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Aug 10, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000711617.2
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The p.Arg2072His variant in OTOG has not been previously reported in individuals with hearing loss but has been identified in 0.14% (93/66920) of European chrom … (more)
Uncertain significance
(May 19, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000619639.3
Submitted: (Sep 23, 2021)
Evidence details
Comment:
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 … (more)

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
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer. Feliubadaló L Scientific reports 2017 PMID: 28050010
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs188527711...

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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 30, 2021