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NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 27, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000607650.4

Allele description [Variation Report for NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys)]

NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.4186G>A (p.Glu1396Lys)
HGVS:
  • NC_000002.12:g.26467406C>T
  • NG_009937.1:g.96293G>A
  • NM_001287489.2:c.4186G>A
  • NM_004802.4:c.1885G>A
  • NM_194248.3:c.4186G>AMANE SELECT
  • NM_194322.3:c.2116G>A
  • NM_194323.3:c.1885G>A
  • NP_001274418.1:p.Glu1396Lys
  • NP_004793.2:p.Glu629Lys
  • NP_919224.1:p.Glu1396Lys
  • NP_919303.1:p.Glu706Lys
  • NP_919304.1:p.Glu629Lys
  • NC_000002.11:g.26690274C>T
  • NM_194248.2:c.4186G>A
Protein change:
E1396K
Links:
dbSNP: rs745399096
NCBI 1000 Genomes Browser:
rs745399096
Molecular consequence:
  • NM_001287489.2:c.4186G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004802.4:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.4186G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194322.3:c.2116G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194323.3:c.1885G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000712154Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(May 27, 2016) 		germlineclinical testing

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

Help

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, Mass General Brigham Personalized Medicine, SCV000712154.2

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

Description

The p.Glu1396Lys variant in OTOF has not been previously reported in individuals with hearing loss, but was identified in 4/8634 of East Asian chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs74 5399096). Although this variant has been seen in the general population, its f requency is not high enough to rule out a pathogenic role. Computational predic tion tools and conservation analyses do not provide strong support for or agains t an impact to the protein. In summary, the clinical significance of the p.Glu13 96Lys variant is uncertain.

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

Last Updated: Sep 29, 2024