NM_001277269.1(OTOG):c.3395T>C (p.Leu1132Pro) AND not specified

Clinical significance:Uncertain significance (Last evaluated: May 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000604848.1

Allele description [Variation Report for NM_001277269.1(OTOG):c.3395T>C (p.Leu1132Pro)]

NM_001277269.1(OTOG):c.3395T>C (p.Leu1132Pro)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001277269.1(OTOG):c.3395T>C (p.Leu1132Pro)
HGVS:
  • NC_000011.10:g.17594117T>C
  • NG_033191.1:g.51745T>C
  • NG_033191.2:g.51745T>C
  • NM_001277269.1:c.3395T>C
  • NM_001292063.1:c.3359T>C
  • NP_001264198.1:p.Leu1132Pro
  • NP_001278992.1:p.Leu1120Pro
  • NC_000011.9:g.17615664T>C
Protein change:
L1120P
Links:
dbSNP: rs757588809
NCBI 1000 Genomes Browser:
rs757588809
Molecular consequence:
  • NM_001277269.1:c.3395T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.1:c.3359T>C - 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
SCV000731627Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(May 16, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000731627.2

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

Description

The p.Leu1132Pro variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 12/67064 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs757588809). Although this variant has been seen in the general population, it s frequency is not high enough to rule out a pathogenic role. Computational pred iction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogeni city. In summary, the clinical significance of the p.Leu1132Pro variant is uncer tain.

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

Last Updated: Sep 23, 2021

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