NM_194248.3(OTOF):c.1926C>T (p.Asn642=) AND not specified

Clinical significance:Benign (Last evaluated: Jan 2, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000041473.4

Allele description [Variation Report for NM_194248.3(OTOF):c.1926C>T (p.Asn642=)]

NM_194248.3(OTOF):c.1926C>T (p.Asn642=)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.1926C>T (p.Asn642=)
HGVS:
  • NC_000002.12:g.26479640G>A
  • NG_009937.1:g.84059C>T
  • NM_001287489.2:c.1926C>T
  • NM_194248.3:c.1926C>TMANE SELECT
  • NP_001274418.1:p.Asn642=
  • NP_919224.1:p.Asn642=
  • NC_000002.11:g.26702508G>A
  • NM_194248.1:c.1926C>T
  • NM_194248.2:c.1926C>T
  • c.1926C>T
  • p.Asn642Asn
Links:
dbSNP: rs72853741
NCBI 1000 Genomes Browser:
rs72853741
Molecular consequence:
  • NM_001287489.2:c.1926C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_194248.3:c.1926C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
89

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065168Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Oct 6, 2010)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV000316847PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

SCV000717012GeneDxcriteria provided, single submitter
Benign
(Jan 2, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided9089not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Varga R, Avenarius MR, Kelley PM, Keats BJ, Berlin CI, Hood LJ, Morlet TG, Brashears SM, Starr A, Cohn ES, Smith RJ, Kimberling WJ.

J Med Genet. 2006 Jul;43(7):576-81. Epub 2005 Dec 21.

PubMed [citation]
PMID:
16371502
PMCID:
PMC2593030

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
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000065168.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided90not providednot providedclinical testing PubMed (2)

Description

Asn642Asn in exon 17 of OTOF: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP (rs72853741 ? no frequency data), has been f ound in 5/150 (3%) cases in our laboratory (two of whom have other hearing loss etiologies), and is reported as benign in two publications (Smith 2008, Varga 20 06).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided90not provided89not provided

From PreventionGenetics,PreventionGenetics, SCV000316847.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000717012.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center