NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs) AND Rare genetic deafness

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 1, 2008
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:: RCV000041491.5

Allele description [Variation Report for NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs)]

NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_194248.3(OTOF):c.2370_2371insA (p.Asp791fs)

HGVS:

NC_000002.12:g.26477451_26477452insT
NG_009937.1:g.86247_86248insA
NM_001287489.2:c.2370_2371insA
NM_004802.4:c.129_130insA
NM_194248.3:c.2370_2371insAMANE SELECT
NM_194322.3:c.300_301insA
NM_194323.3:c.129_130insA
NP_001274418.1:p.Asp791fs
NP_004793.2:p.Asp44fs
NP_919224.1:p.Asp791fs
NP_919303.1:p.Asp101fs
NP_919304.1:p.Asp44fs
NC_000002.11:g.26700319_26700320insT
NM_194248.2:c.2370_2371insA
c.2370_2371insA
p.Asp791ArgfsX102

Protein change:

D101fs

Links:

dbSNP: rs111033370

NCBI 1000 Genomes Browser:

rs111033370

Molecular consequence:

NM_001287489.2:c.2370_2371insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004802.4:c.129_130insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_194248.3:c.2370_2371insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_194322.3:c.300_301insA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_194323.3:c.129_130insA - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Rare genetic deafness
Identifiers:: MedGen: C5680250; Orphanet: 96210

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000065186	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Mar 1, 2008)	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

SCV000065186

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Mar 1, 2008)

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, SCV000065186.6

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

#	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: Apr 7, 2025

ClinVar

Relating variation to medicine