NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=) AND not specified

Clinical significance:Benign (Last evaluated: May 9, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000218158.5

Allele description [Variation Report for NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=)]

NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.8241C>T (p.Cys2747=)
HGVS:
  • NC_000011.10:g.17641897C>T
  • NG_033191.2:g.99525C>T
  • NM_001277269.1:c.8277C>T
  • NM_001277269.2:c.8277C>T
  • NM_001292063.2:c.8241C>TMANE SELECT
  • NP_001264198.1:p.Cys2759=
  • NP_001264198.1:p.Cys2759=
  • NP_001278992.1:p.Cys2747=
  • NC_000011.9:g.17663444C>T
  • NC_000011.9:g.17663444C>T
  • p.Cys2759Cys
Links:
dbSNP: rs10832824
NCBI 1000 Genomes Browser:
rs10832824
Molecular consequence:
  • NM_001277269.1:c.8277C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001277269.2:c.8277C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001292063.2:c.8241C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
512

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000269531Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Nov 24, 2014)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000717096GeneDxcriteria provided, single submitter
Benign
(May 9, 2017)
germlineclinical testing

Citation Link,

SCV001744103Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensusno assertion criteria providedBenigngermlineclinical testing

SCV001958651Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided520512not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000269531.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided520not providednot providedclinical testing PubMed (1)

Description

Cys2759Cys in exon 51 of OTOG: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 51.0% (99/194) of L uhya (Kenyan) chromosomes from a broad population by the 1000 Genomes Project (h ttp://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs10832824).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided520not provided512not provided

From GeneDx, SCV000717096.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001744103.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Human Genetics - Radboudumc,Radboudumc - VKGL Data-share Consensus, SCV001958651.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 25, 2021

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