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NM_001292063.2(OTOG):c.5052C>T (p.Pro1684=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 1, 2021)
Last evaluated:
Mar 20, 2020
Accession:
VCV000805109.3
Variation ID:
805109
Description:
single nucleotide variant
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NM_001292063.2(OTOG):c.5052C>T (p.Pro1684=)

Allele ID
793390
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17610352 (GRCh38) GRCh38 UCSC
11: 17631899 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17610352C>T
NC_000011.9:g.17631899C>T
NG_033191.1:g.67980C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17610351:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00300 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00173
Exome Aggregation Consortium (ExAC) 0.00516
1000 Genomes Project 0.00300
Links
dbSNP: rs559123807
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Mar 20, 2020 RCV000992490.3
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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
649 672

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 12, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001144844.1
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Mar 20, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001817216.1
Submitted: (Sep 01, 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 rs559123807...

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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 24, 2021