NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr) AND Autosomal recessive nonsyndromic hearing loss 9

Germline classification:
association (1 submission)
Last evaluated:
Jul 30, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000041550.4

Allele description

NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
HGVS:
  • NC_000002.12:g.26465753A>G
  • NG_009937.1:g.97946T>C
  • NM_001287489.2:c.4718T>C
  • NM_004802.4:c.2417T>C
  • NM_194248.3:c.4718T>CMANE SELECT
  • NM_194322.3:c.2648T>C
  • NM_194323.3:c.2417T>C
  • NP_001274418.1:p.Ile1573Thr
  • NP_004793.2:p.Ile806Thr
  • NP_919224.1:p.Ile1573Thr
  • NP_919224.1:p.Ile1573Thr
  • NP_919303.1:p.Ile883Thr
  • NP_919304.1:p.Ile806Thr
  • NC_000002.11:g.26688621A>G
  • NM_194248.2:c.4718T>C
  • c.4718T>C
Protein change:
I1573T
Links:
dbSNP: rs111033405
NCBI 1000 Genomes Browser:
rs111033405
Molecular consequence:
  • NM_001287489.2:c.4718T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004802.4:c.2417T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.4718T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194322.3:c.2648T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194323.3:c.2417T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 9
Synonyms:
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9; Deafness, autosomal recessive 9; AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, TEMPERATURE-SENSITIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010986; MedGen: C1832828; Orphanet: 90636; OMIM: 601071

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000243818GeneReviews
no assertion criteria provided
association
(Jul 30, 2015) 		germlineliterature only

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Evidence for genotype-phenotype correlation for OTOF mutations.

Yildirim-Baylan M, Bademci G, Duman D, Ozturkmen-Akay H, Tokgoz-Yilmaz S, Tekin M.

Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):950-3. doi: 10.1016/j.ijporl.2014.03.022. Epub 2014 Mar 28.

PubMed [citation]
PMID:
24746455
PMCID:
PMC4066206

Details of each submission

From GeneReviews, SCV000243818.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2022