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NM_194248.3(OTOF):c.1723G>A (p.Val575Met) AND Nonsyndromic genetic hearing loss

Germline classification:
Benign (1 submission)
Last evaluated:
May 13, 2022
Review status:
3 stars out of maximum of 4 stars
reviewed by expert panel
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:
RCV002228048.9

Allele description [Variation Report for NM_194248.3(OTOF):c.1723G>A (p.Val575Met)]

NM_194248.3(OTOF):c.1723G>A (p.Val575Met)

Gene:
OTOF:otoferlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_194248.3(OTOF):c.1723G>A (p.Val575Met)
Other names:
NM_194248.3(OTOF):c.1723G>A
HGVS:
  • NC_000002.12:g.26480866C>T
  • NG_009937.1:g.82833G>A
  • NM_001287489.2:c.1723G>A
  • NM_194248.3:c.1723G>AMANE SELECT
  • NP_001274418.1:p.Val575Met
  • NP_919224.1:p.Val575Met
  • NC_000002.11:g.26703734C>T
  • NM_194248.1:c.1723G>A
  • NM_194248.2:c.1723G>A
  • Q9HC10:p.Val575Met
  • c.1723G>A
Protein change:
V575M
Links:
UniProtKB: Q9HC10#VAR_032230; dbSNP: rs55676840
NCBI 1000 Genomes Browser:
rs55676840
Molecular consequence:
  • NM_001287489.2:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_194248.3:c.1723G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Nonsyndromic genetic hearing loss
Synonyms:
Nonsyndromic hearing loss and deafness; Non-syndromic genetic deafness; Nonsyndromic genetic deafness
Identifiers:
MONDO: MONDO:0019497; MedGen: C5680182; Orphanet: 87884

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002512123ClinGen Hearing Loss Variant Curation Expert Panel
reviewed by expert panel

(clingen hl acmg specifications otof myo15a v1)		Benign
(May 13, 2022) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From ClinGen Hearing Loss Variant Curation Expert Panel, SCV002512123.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

The filtering allele frequency (the lower threshold of the 95% CI of 1269/30610) of the c.1723G>A (p.Val575Met) variant in the OTOF gene is 3.95% for South Asian chromosome in gnomAD v2.1.1, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss variants (BA1).

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

Last Updated: Oct 13, 2024