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NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 31, 2017
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:
RCV000041539.7

Allele description [Variation Report for NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn)]

NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn)
HGVS:
  • NC_000002.12:g.26467376C>T
  • NG_009937.1:g.96323G>A
  • NM_001287489.2:c.4216G>A
  • NM_004802.4:c.1915G>A
  • NM_194248.3:c.4216G>AMANE SELECT
  • NM_194322.3:c.2146G>A
  • NM_194323.3:c.1915G>A
  • NP_001274418.1:p.Asp1406Asn
  • NP_004793.2:p.Asp639Asn
  • NP_919224.1:p.Asp1406Asn
  • NP_919303.1:p.Asp716Asn
  • NP_919304.1:p.Asp639Asn
  • NC_000002.11:g.26690244C>T
  • NM_194248.2:c.4216G>A
  • c.4216G>A
Protein change:
D1406N
Links:
dbSNP: rs111033352
NCBI 1000 Genomes Browser:
rs111033352
Molecular consequence:
  • NM_001287489.2:c.4216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004802.4:c.1915G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.4216G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194322.3:c.2146G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194323.3:c.1915G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000065234Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Mar 31, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided44not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000065234.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

The p.Asp1406Asn variant in OTOF has been previously identified by our laborator y in 3 individuals hearing loss who all also have the p.Ile637Thr variant of unc ertain significance, suggesting that these two variants may occur in cis (on the same allele). One of those individuals was reported to have auditory neuropathy /dys-synchrony and carried additional OTOF variants that were likely causative f or the hearing loss. This variant has been identified in 0.2% (19/10402) of Afri can chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs111033352). Computational prediction tools and conservation a nalyses do not provide strong support for or against an impact to the protein. I n summary, the clinical significance of the p.Asp1406Asn variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided4not provided

Last Updated: Sep 29, 2024