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NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 27, 2021)
Last evaluated:
Feb 17, 2021
Accession:
VCV000596372.3
Variation ID:
596372
Description:
3bp microsatellite
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NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)

Allele ID
587433
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
11p15.1
Genomic location
11: 17555837-17555839 (GRCh38) GRCh38 UCSC
11: 17577384-17577386 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17555838CTT[1]
NC_000011.9:g.17577385CTT[1]
NM_001292063.2:c.600CTT[1] MANE Select NP_001278992.1:p.Phe202del
... more HGVS
Protein change
F214del, F202del
Other names
-
Canonical SPDI
NC_000011.10:17555836:TCTTCTT:TCTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs753906203
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 27, 2018 RCV000732183.1
Uncertain significance 1 criteria provided, single submitter Aug 9, 2018 RCV001336339.1
Uncertain significance 1 criteria provided, single submitter Feb 17, 2021 RCV001449713.1
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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
Uncertain significance
(Mar 27, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000860103.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Aug 09, 2018)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 18b
Allele origin: paternal
Baylor Genetics
Accession: SCV001529700.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Uncertain significance
(Feb 17, 2021)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV001652969.1
Submitted: (May 27, 2021)
Evidence details
Comment:
The p.Phe214del variant in OTOG has not been previously reported in individuals with hearing loss but has been identified in 0.18% (125/71330) of European chromosomes … (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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=OTOG - - - -

Text-mined citations for rs753906203...

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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 Jul 07, 2021