NM_194248.3(OTOF):c.3189G>A (p.Ala1063=) AND not specified

Clinical significance:Benign (Last evaluated: Oct 18, 2010)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041519.5

Allele description [Variation Report for NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)]

NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)
HGVS:
  • NC_000002.12:g.26474612C>T
  • NG_009937.1:g.89087G>A
  • NM_001287489.2:c.3189G>A
  • NM_004802.4:c.948G>A
  • NM_194248.3:c.3189G>AMANE SELECT
  • NM_194322.3:c.1119G>A
  • NM_194323.3:c.948G>A
  • NP_001274418.1:p.Ala1063=
  • NP_004793.2:p.Ala316=
  • NP_919224.1:p.Ala1063=
  • NP_919303.1:p.Ala373=
  • NP_919304.1:p.Ala316=
  • NC_000002.11:g.26697480C>T
  • NM_194248.1:c.3189G>A
  • NM_194248.2:c.3189G>A
  • c.3189G>A
  • p.Ala1063Ala
Links:
dbSNP: rs80356573
NCBI 1000 Genomes Browser:
rs80356573
Molecular consequence:
  • NM_001287489.2:c.3189G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004802.4:c.948G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_194248.3:c.3189G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_194322.3:c.1119G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_194323.3:c.948G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
65

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065214Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Oct 18, 2010)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided6565not 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 multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy.

Rodríguez-Ballesteros M, Reynoso R, Olarte M, Villamar M, Morera C, Santarelli R, Arslan E, Medá C, Curet C, Völter C, Sainz-Quevedo M, Castorina P, Ambrosetti U, Berrettini S, Frei K, Tedín S, Smith J, Cruz Tapia M, Cavallé L, Gelvez N, Primignani P, Gómez-Rosas E, et al.

Hum Mutat. 2008 Jun;29(6):823-31. doi: 10.1002/humu.20708.

PubMed [citation]
PMID:
18381613
See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000065214.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided65not providednot providedclinical testing PubMed (3)

Description

Ala1063Ala in exon 26 of OTOF: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP with a frequency of 1/118 (.8%) in the YRI West African population (rs116649108), is reported as benign in two publication (Varga 2006, Rodriguez-Ballesteros 2008) and has been identified in 5/211 (2.4%) probands tested by our laboratory (at least 2 have Usher syndrome).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided65not provided65not provided

Last Updated: Nov 10, 2021

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