NM_001277269.2(OTOG):c.[7667G>A] AND not specified

Clinical significance:Likely benign (Last evaluated: Jun 6, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000215655.3

Allele description [Variation Report for NM_001277269.2(OTOG):c.[7667G>A]]

NM_001277269.2(OTOG):c.[7667G>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.[7667G>A]
HGVS:
  • NC_000011.10:g.17635125G>A
  • NG_033191.1:g.92753G>A
  • NG_033191.2:g.92753G>A
  • NM_001277269.1:c.7667G>A
  • NM_001277269.2:c.[7667G>A]
  • NM_001292063.1:c.7631G>A
  • NP_001264198.1:p.Arg2556Gln
  • NP_001278992.1:p.Arg2544Gln
  • NC_000011.9:g.17656672G>A
Protein change:
R2544Q
Links:
dbSNP: rs76461792
NCBI 1000 Genomes Browser:
rs76461792
Molecular consequence:
  • NM_001277269.1:c.7667G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.1:c.7631G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
8

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
SCV000270681Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jun 6, 2017)
germlineclinical testing

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

SCV000705011EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Likely benign
(Jan 20, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown2not providednot providednot providednot providedclinical testing
not providedgermlinenot provided88not 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, SCV000270681.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testing PubMed (1)

Description

p.Arg2556Gln in exon 45 of OTOG: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (292/61730) of European chrom osomes, including 1 homozygote, by the Genome Aggregation Database (gnomAD, http ://gnomad.broadinstitute.org; dbSNP rs76461792).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided8not provided8not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000705011.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 2, 2021

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