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NM_001277269.1(OTOG):c.7436G>A (p.Arg2479His)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 21, 2019)
Last evaluated:
Aug 10, 2018
Accession:
VCV000226908.3
Variation ID:
226908
Description:
single nucleotide variant
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NM_001277269.1(OTOG):c.7436G>A (p.Arg2479His)

Allele ID
230149
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17634201 (GRCh38) GRCh38 UCSC
11: 17655748 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17634201G>A
NC_000011.9:g.17655748G>A
NG_033191.1:g.91829G>A
... more HGVS
Protein change
R2479H, R2467H
Other names
-
Canonical SPDI
NC_000011.10:17634200:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.03854 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.03572
1000 Genomes Project 0.03854
Trans-Omics for Precision Medicine (TOPMed) 0.03234
The Genome Aggregation Database (gnomAD), exomes 0.04049
Exome Aggregation Consortium (ExAC) 0.05934
Links
ClinGen: CA5906127
dbSNP: rs61743165
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 May 9, 2017 RCV000215324.2
Benign 1 criteria provided, single submitter Aug 10, 2018 RCV000712488.2
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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
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: SCV000269522.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Arg2479His in exon 43 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 4.5% (6/132) of … (more)
Benign
(May 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000717836.1
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
(Aug 10, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842990.1
Submitted: (Aug 31, 2018)
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 rs61743165...

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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 Sep 29, 2021