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

Clinical significance:Benign (Last evaluated: Aug 31, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000992477.2

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]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000717014GeneDxcriteria provided, single submitter
Benign
(Jul 16, 2018)
germlineclinical testing

Citation Link,

SCV001144819Athena Diagnostics Inccriteria provided, single submitter
Benign
(Aug 31, 2018)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot 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 Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000717014.2

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

Description

This variant is associated with the following publications: (PMID: 16371502, 18381613, 20301429)

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

From Athena Diagnostics Inc, SCV001144819.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2021

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