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NM_001292063.2(OTOG):c.7062T>C (p.Ser2354=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 25, 2019)
Last evaluated:
Nov 12, 2018
Accession:
VCV000226905.3
Variation ID:
226905
Description:
single nucleotide variant
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NM_001292063.2(OTOG):c.7062T>C (p.Ser2354=)

Allele ID
230145
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17632216 (GRCh38) GRCh38 UCSC
11: 17653763 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.17653763T>C
NM_001277269.1:c.7098T>C NP_001264198.1:p.Ser2366= synonymous
NC_000011.10:g.17632216T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17632215:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.06929 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.02195
The Genome Aggregation Database (gnomAD) 0.03453
Exome Aggregation Consortium (ExAC) 0.04651
Trans-Omics for Precision Medicine (TOPMed) 0.03579
1000 Genomes Project 0.06929
Links
ClinGen: CA5906094
dbSNP: rs7114549
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 Oct 9, 2017 RCV000215092.2
Benign 1 criteria provided, single submitter Nov 12, 2018 RCV000992492.1
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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: SCV000269519.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ser2366Ser in exon 41 of OTOG: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue … (more)
Benign
(Oct 09, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000718790.1
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
(Nov 12, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144847.1
Submitted: (Sep 25, 2019)
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 rs7114549...

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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