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NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn) AND Meniere disease

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 1, 2020
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001254790.2

Allele description [Variation Report for NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn)]

NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.8490G>C (p.Lys2830Asn)
HGVS:
  • NC_000011.10:g.17645592G>C
  • NG_033191.2:g.103220G>C
  • NM_001277269.2:c.8526G>C
  • NM_001292063.2:c.8490G>CMANE SELECT
  • NP_001264198.1:p.Lys2842Asn
  • NP_001264198.1:p.Lys2842Asn
  • NP_001278992.1:p.Lys2830Asn
  • NC_000011.9:g.17667139G>C
  • NM_001277269.1:c.8526G>C
  • NM_001277269.2:c.[8526G>C]
Protein change:
K2830N
Links:
dbSNP: rs61997203
NCBI 1000 Genomes Browser:
rs61997203
Molecular consequence:
  • NM_001277269.2:c.8526G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.8490G>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167204Otology & 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

(ACMG Guidelines, 2015)		Likely benign
(Jan 1, 2020) 		germlinecase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes85not 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), SCV001167204.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery8not provided5not provided

Last Updated: Sep 29, 2024