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NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Sep 30, 2021)
Last evaluated:
May 28, 2019
Accession:
VCV000021836.10
Variation ID:
21836
Description:
single nucleotide variant
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NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)

Allele ID
34688
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p23.3
Genomic location
2: 26519093 (GRCh38) GRCh38 UCSC
2: 26741961 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.26741961G>A
NC_000002.12:g.26519093G>A
NG_009937.1:g.44606C>T
... more HGVS
Protein change
R82C
Other names
-
Canonical SPDI
NC_000002.12:26519092:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.26997 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.35740
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.36791
Trans-Omics for Precision Medicine (TOPMed) 0.35181
The Genome Aggregation Database (gnomAD), exomes 0.40412
1000 Genomes Project 0.26997
The Genome Aggregation Database (gnomAD) 0.33475
Trans-Omics for Precision Medicine (TOPMed) 0.36160
Exome Aggregation Consortium (ExAC) 0.43498
Links
ClinGen: CA142803
UniProtKB: Q9HC10#VAR_032227
dbSNP: rs13031859
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts May 28, 2019 RCV000021048.4
Benign 5 criteria provided, multiple submitters, no conflicts Feb 7, 2019 RCV000041497.8
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OTOF - - GRCh38
GRCh37
754 774

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000316853.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 9
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000429657.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Feb 07, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000065192.7
Submitted: (Jun 03, 2020)
Evidence details
Comment:
The p.Arg82Cys variant in OTOF is classified as benign because it has been identified in 40% (104,089/262,952) of total chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria … (more)
Benign
(May 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000717010.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 9
Allele origin: unknown
Mendelics
Accession: SCV001135639.1
Submitted: (Oct 22, 2019)
Evidence details
benign
(Apr 26, 2011)
no assertion criteria provided
Method: curation
OTOF-Related Deafness
Allele origin: not provided
GeneReviews
Accession: SCV000041702.1
Submitted: (Jan 08, 2013)
Evidence details
Comment:
Converted during submission to Benign.
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001740491.3
Submitted: (Sep 02, 2021)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001954884.1
Submitted: (Sep 30, 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
<i>OTOF</i>-Related Deafness Azaiez H - 2021 PMID: 20301429

Text-mined citations for rs13031859...

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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 Nov 27, 2021