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NM_194248.3(OTOF):c.2282G>A (p.Arg761Gln) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 2023
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:
RCV004043745.1

Allele description [Variation Report for NM_194248.3(OTOF):c.2282G>A (p.Arg761Gln)]

NM_194248.3(OTOF):c.2282G>A (p.Arg761Gln)

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.2282G>A (p.Arg761Gln)
HGVS:
  • NC_000002.12:g.26477682C>T
  • NG_009937.1:g.86017G>A
  • NM_001287489.2:c.2282G>A
  • NM_004802.4:c.41G>A
  • NM_194248.3:c.2282G>AMANE SELECT
  • NM_194322.3:c.212G>A
  • NM_194323.3:c.41G>A
  • NP_001274418.1:p.Arg761Gln
  • NP_004793.2:p.Arg14Gln
  • NP_919224.1:p.Arg761Gln
  • NP_919303.1:p.Arg71Gln
  • NP_919304.1:p.Arg14Gln
  • NC_000002.11:g.26700550C>T
  • NM_194248.2:c.2282G>A
Protein change:
R14Q
Links:
dbSNP: rs141544736
NCBI 1000 Genomes Browser:
rs141544736
Molecular consequence:
  • NM_001287489.2:c.2282G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004802.4:c.41G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.2282G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194322.3:c.212G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194323.3:c.41G>A - 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
SCV004995869Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 13, 2023) 		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, SCV004995869.1

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

Description

The c.2282G>A (p.R761Q) alteration is located in exon 19 (coding exon 19) of the OTOF gene. This alteration results from a G to A substitution at nucleotide position 2282, causing the arginine (R) at amino acid position 761 to be replaced by a glutamine (Q). 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: Sep 29, 2024