NM_001277269.1(OTOG):c.3704C>T (p.Thr1235Ile) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 17, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000483239.1

Allele description [Variation Report for NM_001277269.1(OTOG):c.3704C>T (p.Thr1235Ile)]

NM_001277269.1(OTOG):c.3704C>T (p.Thr1235Ile)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001277269.1(OTOG):c.3704C>T (p.Thr1235Ile)
HGVS:
  • NC_000011.10:g.17596993C>T
  • NG_033191.1:g.54621C>T
  • NG_033191.2:g.54621C>T
  • NM_001277269.1:c.3704C>T
  • NM_001292063.1:c.3668C>T
  • NP_001264198.1:p.Thr1235Ile
  • NP_001278992.1:p.Thr1223Ile
  • NC_000011.9:g.17618540C>T
Protein change:
T1223I
Links:
dbSNP: rs938096068
NCBI 1000 Genomes Browser:
rs938096068
Molecular consequence:
  • NM_001277269.1:c.3704C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.1:c.3668C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000574210GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 17, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000574210.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The T1235I variant in the OTOG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T1235I variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The T1235I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Threonine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T1235I as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

Support Center