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NM_001292063.2(OTOG):c.94+37G>A

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 25, 2019)
Last evaluated:
Aug 31, 2018
Accession:
VCV000226863.3
Variation ID:
226863
Description:
single nucleotide variant
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NM_001292063.2(OTOG):c.94+37G>A

Allele ID
230040
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17547503 (GRCh38) GRCh38 UCSC
11: 17569050 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.17569050G>A
NM_001277269.1:c.131G>A NP_001264198.1:p.Arg44Gln missense
NC_000011.10:g.17547503G>A
... more HGVS
Protein change
R44Q
Other names
-
Canonical SPDI
NC_000011.10:17547502:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01218 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.02083
1000 Genomes Project 0.01218
Trans-Omics for Precision Medicine (TOPMed) 0.01330
The Genome Aggregation Database (gnomAD), exomes 0.00240
The Genome Aggregation Database (gnomAD) 0.01215
Links
ClinGen: CA5905310
dbSNP: rs111425080
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Aug 31, 2018 RCV000842053.2
Benign 1 criteria provided, single submitter Nov 24, 2014 RCV000219313.1
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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: SCV000269477.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Arg44Gln in exon 1 of OTOG: This variant is not expected to have clinical signif icance because it has been identified in 4.5% (8/176) of … (more)
Benign
(Jun 04, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000984046.1
Submitted: (Apr 12, 2019)
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
(Aug 31, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144834.1
Submitted: (Sep 25, 2019)
Evidence details
Publications
PubMed (1)

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
Identification of Misclassified ClinVar Variants via Disease Population Prevalence. Shah N American journal of human genetics 2018 PMID: 29625023

Text-mined citations for rs111425080...

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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