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NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp) AND Autosomal dominant nonsyndromic hearing loss 48

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 1, 2014
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:
RCV000008626.4

Allele description [Variation Report for NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp)]

NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp)

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.1155G>T (p.Glu385Asp)
HGVS:
  • NC_000012.12:g.57041441C>A
  • NG_012104.1:g.13669G>T
  • NM_001256041.2:c.1155G>T
  • NM_005379.4:c.1155G>TMANE SELECT
  • NP_001242970.1:p.Glu385Asp
  • NP_005370.1:p.Glu385Asp
  • NC_000012.11:g.57435225C>A
  • Q9UBC5:p.Glu385Asp
Protein change:
E385D; GLU385ASP
Links:
UniProtKB: Q9UBC5#VAR_015947; OMIM: 601478.0004; dbSNP: rs61753849
NCBI 1000 Genomes Browser:
rs61753849
Molecular consequence:
  • NM_001256041.2:c.1155G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005379.4:c.1155G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028834OMIM
no assertion criteria provided
Uncertain significance
(May 1, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

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, SCV000028834.3

#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).

Donaudy et al. (2003) identified a G-to-T transversion at nucleotide 1155 of the MYO1A gene, resulting in a glu385-to-asp (E385D) substitution, in a 10-year-old female patient with sensorineural hearing loss (607841) of early onset (age 2 years). Hearing loss was moderate to severe in the left ear but mild in the right ear, and the patient did not use hearing aids. A family history of moderate to severe progressive hearing loss was present in the maternal branch, transmitted as an autosomal dominant trait with incomplete penetrance and/or variable expressivity.

From a search of genomewide databases, Eisenberger et al. (2014) found that most of the 10 reported MYO1A variants in patients with nonsyndromic hearing loss had documented allele frequencies, with 4 above the MAF cutoff of 0.1% in at least 1 database.

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

Last Updated: Apr 23, 2022