NM_194248.3(OTOF):c.2215-19C>G AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Oct 8, 2015
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000041484.14

Allele description [Variation Report for NM_194248.3(OTOF):c.2215-19C>G]

NM_194248.3(OTOF):c.2215-19C>G

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_194248.3(OTOF):c.2215-19C>G

HGVS:

NC_000002.12:g.26477768G>C
NG_009937.1:g.85931C>G
NM_001287489.2:c.2215-19C>G
NM_004802.4:c.-27-19C>G
NM_194248.3:c.2215-19C>GMANE SELECT
NM_194322.3:c.126C>G
NM_194323.3:c.-27-19C>G
NP_919303.1:p.Thr42=
NC_000002.11:g.26700636G>C
NM_194248.2:c.2215-19C>G
NM_194322.2:c.126C>G
c.2215-19C>G
p.Thr42Thr

Links:

dbSNP: rs111033427

NCBI 1000 Genomes Browser:

rs111033427

Molecular consequence:

NM_001287489.2:c.2215-19C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_004802.4:c.-27-19C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_194248.3:c.2215-19C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_194323.3:c.-27-19C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_194322.3:c.126C>G - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000065179	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Jun 13, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000335419	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Oct 8, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000065179

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Jun 13, 2013)

germline

clinical testing

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

SCV000335419

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Oct 8, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	19	19	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	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, SCV000065179.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	19	not provided	not provided	clinical testing	PubMed (1)

Description

p.Thr42Thr in exon 1A of OTOF: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.7% (57/8531) of Eur opean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS/; dbSNP rs111033427).

#	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		19	not provided	19	not provided

From Eurofins Ntd Llc (ga), SCV000335419.4

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

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

Last Updated: Oct 20, 2024

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