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NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 19, 2014
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:
RCV000151607.4

Allele description [Variation Report for NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu)]

NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu)

Genes:
LOC129933334:ATAC-STARR-seq lymphoblastoid active region 15473 [Gene]
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.2248A>G (p.Lys750Glu)
HGVS:
  • NC_000002.12:g.26477716T>C
  • NG_009937.1:g.85983A>G
  • NM_001287489.2:c.2248A>G
  • NM_004802.4:c.7A>G
  • NM_194248.3:c.2248A>GMANE SELECT
  • NM_194322.3:c.178A>G
  • NM_194323.3:c.7A>G
  • NP_001274418.1:p.Lys750Glu
  • NP_004793.2:p.Lys3Glu
  • NP_919224.1:p.Lys750Glu
  • NP_919303.1:p.Lys60Glu
  • NP_919304.1:p.Lys3Glu
  • NC_000002.11:g.26700584T>C
  • NM_194322.2:c.178A>G
Protein change:
K3E
Links:
dbSNP: rs551919295
NCBI 1000 Genomes Browser:
rs551919295
Molecular consequence:
  • NM_001287489.2:c.2248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004802.4:c.7A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.2248A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194322.3:c.178A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194323.3:c.7A>G - 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
SCV000199792Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Aug 19, 2014) 		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, SCV000199792.5

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

Description

The Lys750Glu variant in OTOF has not been previously reported in individuals wi th hearing loss or in large population studies. Computational prediction tools a nd conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Lys60Glu variant is uncertain.

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

Last Updated: Sep 29, 2024