NM_194248.3(OTOF):c.2287G>T (p.Val763Phe) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 28, 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:: RCV000217325.4

Allele description [Variation Report for NM_194248.3(OTOF):c.2287G>T (p.Val763Phe)]

NM_194248.3(OTOF):c.2287G>T (p.Val763Phe)

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.2287G>T (p.Val763Phe)

HGVS:

NC_000002.12:g.26477677C>A
NG_009937.1:g.86022G>T
NM_001287489.2:c.2287G>T
NM_004802.4:c.46G>T
NM_194248.3:c.2287G>TMANE SELECT
NM_194322.3:c.217G>T
NM_194323.3:c.46G>T
NP_001274418.1:p.Val763Phe
NP_004793.2:p.Val16Phe
NP_919224.1:p.Val763Phe
NP_919303.1:p.Val73Phe
NP_919304.1:p.Val16Phe
NC_000002.11:g.26700545C>A
NM_194322.2:c.217G>T

Protein change:

V16F

Links:

dbSNP: rs138545671

NCBI 1000 Genomes Browser:

rs138545671

Molecular consequence:

NM_001287489.2:c.2287G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004802.4:c.46G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_194248.3:c.2287G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_194322.3:c.217G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_194323.3:c.46G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000272243	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Feb 28, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000272243

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Feb 28, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical 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, SCV000272243.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

The p.Val73Phe variant in OTOF has not been previously reported in individuals w ith hearing loss. This variant has been identified in 1/63784 European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs138545671), however its frequency is not high enough to rule out a pathoge nic role. Computational prediction tools and conservation analyses suggest that the p.Val73Phe variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of the p.Val73Phe variant is uncertain.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Oct 14, 2023

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