NM_194248.3(OTOF):c.4023+1G>A AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 7, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000041538.5

Allele description [Variation Report for NM_194248.3(OTOF):c.4023+1G>A]

NM_194248.3(OTOF):c.4023+1G>A

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.4023+1G>A
HGVS:
  • NC_000002.12:g.26470592C>T
  • NG_009937.1:g.93107G>A
  • NM_001287489.2:c.4023+1G>A
  • NM_004802.4:c.1722+1G>A
  • NM_194248.3:c.4023+1G>AMANE SELECT
  • NM_194322.3:c.1953+1G>A
  • NM_194323.3:c.1722+1G>A
  • NC_000002.11:g.26693460C>T
  • NM_194248.2:c.4023+1G>A
  • c.4023+1G>A
Links:
dbSNP: rs186810296
NCBI 1000 Genomes Browser:
rs186810296
Molecular consequence:
  • NM_001287489.2:c.4023+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004802.4:c.1722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_194248.3:c.4023+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_194322.3:c.1953+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_194323.3:c.1722+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
3

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000065233Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Apr 7, 2021)
germlineclinical testing

PubMed (11)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown33not providednot providednot providedclinical testing

Citations

PubMed

Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder.

Wang J, Fan YY, Wang SJ, Liang PF, Wang JL, Qiu JH.

PLoS One. 2011;6(9):e24000. doi: 10.1371/journal.pone.0024000. Epub 2011 Sep 15.

PubMed [citation]
PMID:
21935370
PMCID:
PMC3174136

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H, Booth KT, Ephraim SS, Crone B, Black-Ziegelbein EA, Marini RJ, Shearer AE, Sloan-Heggen CM, Kolbe D, Casavant T, Schnieders MJ, Nishimura C, Braun T, Smith RJH.

Am J Hum Genet. 2018 Oct 4;103(4):484-497. doi: 10.1016/j.ajhg.2018.08.006. Epub 2018 Sep 20.

PubMed [citation]
PMID:
30245029
PMCID:
PMC6174355
See all PubMed Citations (11)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000065233.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (11)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided3not provided3not provided

Last Updated: Nov 27, 2021

Support Center