NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 6, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000826001.1

Allele description [Variation Report for NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly)]

NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.284C>G (p.Ala95Gly)
HGVS:
  • NC_000011.10:g.17552067C>G
  • NG_033191.1:g.9695C>G
  • NG_033191.2:g.9695C>G
  • NM_001277269.1:c.320C>G
  • NM_001277269.2:c.320C>G
  • NM_001292063.2:c.284C>GMANE SELECT
  • NP_001264198.1:p.Ala107Gly
  • NP_001278992.1:p.Ala95Gly
  • NC_000011.9:g.17573614C>G
  • p.Ala107Gly
Protein change:
A107G
Links:
dbSNP: rs941077657
NCBI 1000 Genomes Browser:
rs941077657
Molecular consequence:
  • NM_001277269.2:c.320C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.284C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000967489Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Feb 6, 2019)
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, SCV000967489.2

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

Description

The p.Ala107Gly variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 0.02% (4/15500) of African chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting.

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

Last Updated: Jul 7, 2021

Support Center