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NM_001292063.2(OTOG):c.2561+1del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 11, 2020)
Last evaluated:
Jun 20, 2019
Accession:
VCV000977076.1
Variation ID:
977076
Description:
1bp deletion
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NM_001292063.2(OTOG):c.2561+1del

Allele ID
965209
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17576630 (GRCh38) GRCh38 UCSC
11: 17598177 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17576631del
NC_000011.9:g.17598178del
NM_001292063.2:c.2561+1del MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17576629:GG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 20, 2019 RCV001254600.1
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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
Likely pathogenic
(Jun 20, 2019)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 18B
Allele origin: germline
Hadassah Hebrew University Medical Center
Accession: SCV001430590.1
Submitted: (Aug 11, 2020)
Comment:
The variant was found in a routine carrier screening.
Evidence details
Publications
PubMed (1)

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
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. Mor-Shaked H European journal of human genetics : EJHG 2021 PMID: 33223529

Record last updated Nov 27, 2020