NM_001292063.2(OTOG):c.4162_4179del (p.Lys1388_Ala1393del) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 3, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000223042.1

Allele description [Variation Report for NM_001292063.2(OTOG):c.4162_4179del (p.Lys1388_Ala1393del)]

NM_001292063.2(OTOG):c.4162_4179del (p.Lys1388_Ala1393del)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.4162_4179del (p.Lys1388_Ala1393del)
HGVS:
  • NC_000011.10:g.17608301_17608318del
  • NG_033191.1:g.65929_65946del
  • NG_033191.2:g.65929_65946del
  • NM_001277269.1:c.4198_4215del
  • NM_001277269.2:c.4198_4215del
  • NM_001292063.2:c.4162_4179delMANE SELECT
  • NP_001264198.1:p.Lys1400_Ala1405del
  • NP_001264198.1:p.Lys1400_Ala1405del
  • NP_001278992.1:p.Lys1388_Ala1393del
  • NC_000011.9:g.17629848_17629865del
Links:
dbSNP: rs876657940
NCBI 1000 Genomes Browser:
rs876657940
Molecular consequence:
  • NM_001277269.1:c.4198_4215del - inframe_deletion - [Sequence Ontology: SO:0001822]
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
SCV000272253Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Jan 3, 2016)
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, SCV000272253.3

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

Description

The p.Lys1400_Ala1405del in OTOG has not been previously reported in individuals with hearing loss and is absent from large population studies, though the abili ty of these studies to accurately detect indels may be limited. This variant is a deletion of 6 amino acids at position 1400 and is not predicted to alter the p rotein reading-frame. It is unclear if this in-frame deletion will impact the no rmal function of the OTOG protein. In summary, the clinical significance of the p.Lys1400_Ala1405del variant is uncertain.

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

Last Updated: Jul 7, 2021

Support Center