NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln) AND Meniere disease

Clinical significance:Uncertain significance (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:
RCV001254788.1

Allele description [Variation Report for NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln)]

NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.7631G>A (p.Arg2544Gln)
HGVS:
  • NC_000011.10:g.17635125G>A
  • NG_033191.2:g.92753G>A
  • NM_001277269.1:c.7667G>A
  • NM_001277269.2:c.7667G>A
  • NM_001277269.2:c.[7667G>A]
  • NM_001292063.2:c.7631G>AMANE SELECT
  • NP_001264198.1:p.Arg2556Gln
  • NP_001264198.1:p.Arg2556Gln
  • NP_001278992.1:p.Arg2544Gln
  • NC_000011.9:g.17656672G>A
  • NC_000011.9:g.17656672G>A
Protein change:
R2544Q
Links:
dbSNP: rs76461792
NCBI 1000 Genomes Browser:
rs76461792
Molecular consequence:
  • NM_001277269.1:c.7667G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277269.2:c.7667G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001277269.2:c.[7667G>A] - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.7631G>A - 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
SCV001167202Otology & 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
Uncertain significance
(Jan 1, 2020)
germlinecase-control

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes22not 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), SCV001167202.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery2not provided2not provided

Last Updated: Oct 25, 2021

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