NM_001277269.2(OTOG):c.[4642C>T] AND Meniere disease

Clinical significance:Likely benign (Last evaluated: Jan 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001254786.1

Allele description [Variation Report for NM_001277269.2(OTOG):c.[4642C>T]]

NM_001277269.2(OTOG):c.[4642C>T]

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001277269.2(OTOG):c.[4642C>T]
HGVS:
  • NC_000011.10:g.17609906C>T
  • NG_033191.1:g.67534C>T
  • NG_033191.2:g.67534C>T
  • NM_001277269.1:c.4642C>T
  • NM_001277269.2:c.[4642C>T]
  • NM_001292063.1:c.4606C>T
  • NP_001264198.1:p.Leu1548Phe
  • NP_001278992.1:p.Leu1536Phe
  • NC_000011.9:g.17631453C>T
Protein change:
L1536F
Links:
dbSNP: rs117380920
NCBI 1000 Genomes Browser:
rs117380920
Molecular consequence:
  • NM_001277269.1:c.4642C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.1:c.4606C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Meniere disease
Synonyms:
Ménière's disease
Identifiers:
MONDO: MONDO:0007972; MedGen: C0025281; OMIM: 156000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001167200Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)criteria provided, single submitter
Likely benign
(Jan 1, 2020)
germlinecase-control

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes33not providednot providednot providedcase-control

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO), SCV001167200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery3not provided3not provided

Last Updated: Sep 25, 2021

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