NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 17, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001449713.1

Allele description [Variation Report for NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)]

NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del)
HGVS:
  • NC_000011.10:g.17555838CTT[1]
  • NG_033191.2:g.13466CTT[1]
  • NM_001277269.2:c.636CTT[1]
  • NM_001292063.2:c.600CTT[1]MANE SELECT
  • NP_001264198.1:p.Phe214del
  • NP_001278992.1:p.Phe202del
  • NC_000011.9:g.17577385CTT[1]
  • NC_000011.9:g.17577388_17577390delCTT
  • NM_001277269.1:c.639_641delCTT
Protein change:
F202del
Links:
dbSNP: rs753906203
NCBI 1000 Genomes Browser:
rs753906203
Molecular consequence:
  • NM_001277269.2:c.636CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001292063.2:c.600CTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
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
SCV001652969Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Feb 17, 2021)
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, SCV001652969.1

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

Description

The p.Phe214del variant in OTOG has not been previously reported in individuals with hearing loss but has been identified in 0.18% (125/71330) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). The variant has been reported in ClinVar (Variation ID 596372). This variant is a an in-frame deletion of one amino acid at position 214 and is not predicted to alter the protein reading frame. Thus, it is unclear if this deletion will impact the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied: BS1_Supporting.

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

Last Updated: Jul 7, 2021

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