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NM_194248.3(OTOF):c.2281C>T (p.Arg761Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 13, 2022
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:
RCV003004717.2

Allele description [Variation Report for NM_194248.3(OTOF):c.2281C>T (p.Arg761Trp)]

NM_194248.3(OTOF):c.2281C>T (p.Arg761Trp)

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.2281C>T (p.Arg761Trp)
HGVS:
  • NC_000002.12:g.26477683G>A
  • NG_009937.1:g.86016C>T
  • NM_001287489.2:c.2281C>T
  • NM_004802.4:c.40C>T
  • NM_194248.3:c.2281C>TMANE SELECT
  • NM_194322.3:c.211C>T
  • NM_194323.3:c.40C>T
  • NP_001274418.1:p.Arg761Trp
  • NP_004793.2:p.Arg14Trp
  • NP_919224.1:p.Arg761Trp
  • NP_919303.1:p.Arg71Trp
  • NP_919304.1:p.Arg14Trp
  • NC_000002.11:g.26700551G>A
  • NM_194248.2:c.2281C>T
Protein change:
R14W
Molecular consequence:
  • NM_001287489.2:c.2281C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004802.4:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.2281C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194322.3:c.211C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194323.3:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003712043Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 13, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003712043.2

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

Description

The c.2281C>T (p.R761W) alteration is located in exon 19 (coding exon 19) of the OTOF gene. This alteration results from a C to T substitution at nucleotide position 2281, causing the arginine (R) at amino acid position 761 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024