NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Aug 10, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000523753.3

Allele description [Variation Report for NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His)]

NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.6179G>A (p.Arg2060His)
HGVS:
  • NC_000011.10:g.17612217G>A
  • NG_033191.2:g.69845G>A
  • NM_001277269.2:c.6215G>A
  • NM_001292063.2:c.6179G>AMANE SELECT
  • NP_001264198.1:p.Arg2072His
  • NP_001264198.1:p.Arg2072His
  • NP_001278992.1:p.Arg2060His
  • NC_000011.9:g.17633764G>A
  • NM_001277269.1:c.6215G>A
Protein change:
R2060H
Links:
dbSNP: rs188527711
NCBI 1000 Genomes Browser:
rs188527711
Molecular consequence:
  • NM_001277269.2:c.6215G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.6179G>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
SCV000711617Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Aug 10, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L, Tonda R, Gausachs M, Trotta JR, Castellanos E, López-Doriga A, Teulé À, Tornero E, Del Valle J, Gel B, Gut M, Pineda M, González S, Menéndez M, Navarro M, Capellá G, Gut I, Serra E, Brunet J, Beltran S, Lázaro C.

Sci Rep. 2017 Jan 4;7:37984. doi: 10.1038/srep37984.

PubMed [citation]
PMID:
28050010
PMCID:
PMC5209723

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, SCV000711617.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.Arg2072His variant in OTOG has not been previously reported in individuals with hearing loss but has been identified in 0.14% (93/66920) of European chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs188527711). Although this variant has been seen in the general popu lation, its frequency is not high enough to rule out a pathogenic role. Computat ional prediction tools and conservation analysis do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Arg2072His variant is uncertain.

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

Last Updated: Dec 4, 2021

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