NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: Nov 14, 2023
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:: RCV000041583.12

Allele description [Variation Report for NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)]

NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)

Gene:

OTOF:otoferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_194248.3(OTOF):c.5742G>A (p.Leu1914=)

HGVS:

NC_000002.12:g.26460718C>T
NG_009937.1:g.102981G>A
NM_001287489.2:c.5742G>A
NM_004802.4:c.3441G>A
NM_194248.3:c.5742G>AMANE SELECT
NM_194322.3:c.3672G>A
NM_194323.3:c.3441G>A
NP_001274418.1:p.Leu1914=
NP_004793.2:p.Leu1147=
NP_919224.1:p.Leu1914=
NP_919303.1:p.Leu1224=
NP_919304.1:p.Leu1147=
NC_000002.11:g.26683586C>T
NM_194248.2:c.5742G>A
NM_194248.3:c.5742G>A
c.5742G>A
p.Leu1914Leu

Links:

dbSNP: rs141235641

NCBI 1000 Genomes Browser:

rs141235641

Molecular consequence:

NM_001287489.2:c.5742G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_004802.4:c.3441G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_194248.3:c.5742G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_194322.3:c.3672G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_194323.3:c.3441G>A - 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
SCV000065278	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Jul 5, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004223850	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Nov 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000065278

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Jul 5, 2017)

germline

clinical testing

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

SCV004223850

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Nov 14, 2023)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	not provided	14	14	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, SCV000065278.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	14	not provided	not provided	clinical testing	PubMed (1)

Description

p.Leu1914Leu in exon 45 of OTOF: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (409/126530) o f European chromosomes including 2 homozygotes by the genome Aggregation Databas e (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs141235641).

#	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		14	not provided	14	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004223850.1

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

Last Updated: Oct 20, 2024

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