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NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
May 18, 2021
Accession:
VCV000226917.7
Variation ID:
226917
Description:
single nucleotide variant
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NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=)

Allele ID
230175
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17641897 (GRCh38) GRCh38 UCSC
11: 17663444 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.17663444C>T
NM_001277269.1:c.8277C>T NP_001264198.1:p.Cys2759= synonymous
NC_000011.10:g.17641897C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17641896:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.34305 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.33474
1000 Genomes Project 0.34305
Trans-Omics for Precision Medicine (TOPMed) 0.34921
The Genome Aggregation Database (gnomAD), exomes 0.29269
The Genome Aggregation Database (gnomAD) 0.35037
Links
ClinGen: CA5906256
dbSNP: rs10832824
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts May 9, 2017 RCV000218158.5
Benign 1 criteria provided, single submitter May 18, 2021 RCV001421024.1
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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
Benign
(Nov 24, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000269531.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Cys2759Cys in exon 51 of OTOG: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue … (more)
Benign
(May 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000717096.1
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 18, 2021)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 18b
Allele origin: germline
Nilou-Genome Lab
Accession: SCV001623498.1
Submitted: (May 19, 2021)
Evidence details
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: SCV001744103.3
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: SCV001958651.1
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs10832824...

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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