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NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) AND Autosomal dominant nonsyndromic hearing loss 48

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
May 10, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000008623.6

Allele description [Variation Report for NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)]

NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)

Genes:
LOC126861538:BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 [Gene]
MYO1A:myosin IA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.3
Genomic location:
Preferred name:
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter)
HGVS:
  • NC_000012.12:g.57047675G>A
  • NG_012104.1:g.7435C>T
  • NM_001256041.2:c.277C>T
  • NM_005379.4:c.277C>TMANE SELECT
  • NP_001242970.1:p.Arg93Ter
  • NP_005370.1:p.Arg93Ter
  • NC_000012.11:g.57441459G>A
  • NM_005379.2:c.277C>T
  • NM_005379.3:c.277C>T
  • p.Arg93*
  • p.Arg93X
  • p.R93*
Protein change:
R93*; ARG93TER
Links:
OMIM: 601478.0001; dbSNP: rs121909305
NCBI 1000 Genomes Browser:
rs121909305
Molecular consequence:
  • NM_001256041.2:c.277C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_005379.4:c.277C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 48
Synonyms:
Deafness, autosomal dominant 48
Identifiers:
MONDO: MONDO:0011920; MedGen: C1842939; Orphanet: 90635; OMIM: 607841

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028831OMIM
no assertion criteria provided
Uncertain significance
(May 1, 2014) 		germlineliterature only

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

SCV000268684Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
no assertion criteria provided
Likely benign
(May 10, 2016) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineno4not providednot provided4not providedresearch

Citations

PubMed

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P.

Am J Hum Genet. 2003 Jun;72(6):1571-7. Epub 2003 May 6.

PubMed [citation]
PMID:
12736868
PMCID:
PMC1180318

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.

Eisenberger T, Di Donato N, Baig SM, Neuhaus C, Beyer A, Decker E, Mürbe D, Decker C, Bergmann C, Bolz HJ.

Hum Mutat. 2014 May;35(5):565-70. doi: 10.1002/humu.22532. Epub 2014 Mar 31.

PubMed [citation]
PMID:
24616153

Details of each submission

From OMIM, SCV000028831.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant, formerly titled DEAFNESS, AUTOSOMAL DOMINANT 48 based on the report of Donaudy et al. (2003), has been reclassified based on the report of Eisenberger et al. (2014).

In a male patient from southern Italy affected by moderate to severe bilateral sensorineural hearing impairment (607841), Donaudy et al. (2003) identified a C-to-T transition at nucleotide 277 in the MYO1A gene, resulting in an arg93-to-ter (R93X) substitution. The mutation was inherited from the patient's mother, who stated that she had normal hearing; however, no audiologic evaluation was available.

Eisenberger et al. (2014) found that the R93X mutation had an allele frequency above the MAF cutoff of 0.1% in at least 1 genomewide database.

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

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000268684.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
2not provided1not providednot providedresearchnot provided
3not provided1not providednot providedresearchnot provided
4not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno1not provideddiscovery1not providednot providednot provided
2germlineno1not provideddiscovery1not providednot providednot provided
3germlineno1not provideddiscovery1not providednot providednot provided
4germlineno1not provideddiscovery1not providednot providednot provided

Last Updated: May 12, 2024