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NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Aug 13, 2021)
Last evaluated:
Dec 16, 2020
Accession:
VCV000218585.4
Variation ID:
218585
Description:
single nucleotide variant
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NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn)

Allele ID
215429
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17638522 (GRCh38) GRCh38 UCSC
11: 17660069 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.17660069G>A
NM_001277269.1:c.7903G>A NP_001264198.1:p.Asp2635Asn missense
NC_000011.10:g.17638522G>A
... more HGVS
Protein change
D2635N, D2623N
Other names
-
Canonical SPDI
NC_000011.10:17638521:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 (A)

Allele frequency
1000 Genomes Project 0.00319
The Genome Aggregation Database (gnomAD) 0.00230
Exome Aggregation Consortium (ExAC) 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00245
Links
ClinGen: CA249343
dbSNP: rs183470913
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 16, 2020 RCV001563013.2
Conflicting interpretations of pathogenicity 3 criteria provided, conflicting interpretations Jun 24, 2017 RCV000203141.3
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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
Uncertain significance
(Feb 05, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000257885.2
Submitted: (Aug 10, 2015)
Evidence details
Benign
(Jun 24, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272266.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Asp2635Asn in exon 47 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.85% (130/15230) of … (more)
Benign
(Apr 04, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000707289.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Dec 16, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001785879.1
Submitted: (Aug 13, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=OTOG - - - -

Text-mined citations for rs183470913...

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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