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NM_001277269.1(OTOG):c.1833G>A (p.Arg611=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 30, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000226864.5
Variation ID:
226864
Description:
single nucleotide variant
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NM_001277269.1(OTOG):c.1833G>A (p.Arg611=)

Allele ID
230069
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17570232 (GRCh38) GRCh38 UCSC
11: 17591779 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17570232G>A
NC_000011.9:g.17591779G>A
NM_001277269.1:c.1833G>A NP_001264198.1:p.Arg611= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17570231:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00779 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00226
The Genome Aggregation Database (gnomAD), exomes 0.00145
1000 Genomes Project 0.00779
The Genome Aggregation Database (gnomAD) 0.00698
Trans-Omics for Precision Medicine (TOPMed) 0.00718
Links
ClinGen: CA5905538
dbSNP: rs73418068
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 Dec 3, 2019 RCV000222226.2
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000826984.3
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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
603 626

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: SCV000269478.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Arg611Arg in exon 16 of OTOG: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue … (more)
Likely benign
(May 17, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000968591.1
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
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001032726.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(Dec 03, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476590.1
Submitted: (Dec 30, 2020)
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 rs73418068...

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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 Jul 07, 2021