U.S. flag

An official website of the United States government

NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 2019
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:
RCV001195513.4

Allele description [Variation Report for NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp)]

NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.1700C>A (p.Ala567Asp)
HGVS:
  • NC_000002.12:g.26480889G>T
  • NG_009937.1:g.82810C>A
  • NM_001287489.2:c.1700C>A
  • NM_194248.2:c.1700C>A
  • NM_194248.3:c.1700C>AMANE SELECT
  • NP_001274418.1:p.Ala567Asp
  • NP_919224.1:p.Ala567Asp
  • NC_000002.11:g.26703757G>T
  • NM_001287489.2:c.1700C>A
Protein change:
A567D
Links:
dbSNP: rs745520384
NCBI 1000 Genomes Browser:
rs745520384
Molecular consequence:
  • NM_001287489.2:c.1700C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.1700C>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001365891Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Aug 14, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown11not 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, SCV001365891.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Ala567Asp variant in OTOF has not been previously reported in individuals with hearing loss but has been identified in 0.01% (5/34564) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not provided1not provided

Last Updated: Jul 23, 2024