NM_001277269.2(OTOG):c.[421G>A] AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 4, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000216800.2

Allele description [Variation Report for NM_001277269.2(OTOG):c.[421G>A]]

NM_001277269.2(OTOG):c.[421G>A]

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001277269.2(OTOG):c.[421G>A]
HGVS:
  • NC_000011.10:g.17553211G>A
  • NG_033191.1:g.10839G>A
  • NG_033191.2:g.10839G>A
  • NM_001277269.1:c.421G>A
  • NM_001277269.2:c.[421G>A]
  • NM_001292063.1:c.385G>A
  • NP_001264198.1:p.Val141Met
  • NP_001278992.1:p.Val129Met
  • NC_000011.9:g.17574758G>A
Protein change:
V129M
Links:
dbSNP: rs552304627
NCBI 1000 Genomes Browser:
rs552304627
Molecular consequence:
  • NM_001277269.1:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.1:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

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
SCV000272254Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Aug 4, 2016)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided33not 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, SCV000272254.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

The p.Val141Met variant in OTOG has been previously reported by our laboratory i n 1 individual with hearing loss, but a variant affecting the remaining copy of OTOG was not identified. This variant has been identified in 4/5062 European Ame rican chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org); however, this frequency in the general population is not high enou gh to rule out a pathogenic role. Computational prediction tools and conservatio n analyses suggest that the p.Val141Met variant may impact the protein, though t his information is not predictive enough to determine pathogenicity. This varian t is located in the last base of the exon, which is part of the 5? splice region . Splice site computational tools suggest a possible impact to splicing, however , this information is not predictive enough to determine pathogenicity. In summa ry, the clinical significance of the p.Val141Met variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided3not provided

Last Updated: Sep 23, 2021

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