Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001292063.2(OTOG):c.2760-3C>G

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 17, 2021)
Last evaluated:
Apr 12, 2021
Accession:
VCV001064892.2
Variation ID:
1064892
Description:
single nucleotide variant
Help

NM_001292063.2(OTOG):c.2760-3C>G

Allele ID
1053323
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17586471 (GRCh38) GRCh38 UCSC
11: 17608018 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17586471C>G
NC_000011.9:g.17608018C>G
NM_001292063.2:c.2760-3C>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:17586470:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 12, 2021 RCV001375092.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 12, 2021)
criteria provided, single submitter
Method: clinical testing
Hearing impairment
Allele origin: germline
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center
Accession: SCV001571957.2
Submitted: (Aug 17, 2021)
Evidence details
Comment:
PM2_Moderate, BP4_Supporting

Functional evidence

Help
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

Help
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Aug 18, 2021