NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 14, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001195623.1

Allele description [Variation Report for NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys)]

NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.6608T>A (p.Met2203Lys)
HGVS:
  • NC_000011.10:g.17629212T>A
  • NG_033191.1:g.86840T>A
  • NG_033191.2:g.86840T>A
  • NM_001277269.2:c.6644T>A
  • NM_001292063.2:c.6608T>AMANE SELECT
  • NP_001264198.1:p.Met2215Lys
  • NP_001278992.1:p.Met2203Lys
  • NC_000011.9:g.17650759T>A
Protein change:
M2203K
Molecular consequence:
  • NM_001277269.2:c.6644T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.6608T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV001366022Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jan 14, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not 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, SCV001366022.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Met2215Lys variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.006% (1/15428) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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