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NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) AND Meniere disease

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 14, 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:
RCV001526689.1

Allele description

NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)
HGVS:
  • NC_000011.10:g.77214688G>A
  • NG_009086.2:g.91443G>A
  • NM_000260.4:c.6640G>AMANE SELECT
  • NM_001127180.2:c.6520G>A
  • NM_001369365.1:c.6493G>A
  • NP_000251.3:p.Gly2214Ser
  • NP_001120652.1:p.Gly2174Ser
  • NP_001356294.1:p.Gly2165Ser
  • LRG_1420t1:c.6640G>A
  • LRG_1420:g.91443G>A
  • LRG_1420p1:p.Gly2214Ser
  • NC_000011.9:g.76925733G>A
  • NG_009086.1:g.91424G>A
  • NM_000260.3:c.6640G>A
  • c.6640G>A
Protein change:
G2165S
Links:
dbSNP: rs111033231
NCBI 1000 Genomes Browser:
rs111033231
Molecular consequence:
  • NM_000260.4:c.6640G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.6520G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.6493G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451446Otology & 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
(Dec 14, 2020) 		germlinecase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes81not 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), SCV001451446.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot provideddiscovery8not provided1not provided

Last Updated: Jun 17, 2024