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NM_001277269.1(OTOG):c.1991+90G>A

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 12, 2019)
Last evaluated:
Jun 16, 2018
Accession:
VCV000682054.1
Variation ID:
682054
Description:
single nucleotide variant
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NM_001277269.1(OTOG):c.1991+90G>A

Allele ID
665605
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17570480 (GRCh38) GRCh38 UCSC
11: 17592027 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17570480G>A
NC_000011.9:g.17592027G>A
NM_001277269.1:c.1991+90G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17570479:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01478 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01619
1000 Genomes Project 0.01478
The Genome Aggregation Database (gnomAD) 0.01504
Links
dbSNP: rs79748590
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 16, 2018 RCV000842054.1
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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
(Jun 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000984047.1
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)

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 rs79748590...

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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 Feb 27, 2021