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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028831	OMIM	no assertion criteria provided	Uncertain significance (May 1, 2014)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12736868, 24616153
SCV000268684	Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq	no assertion criteria provided	Likely benign (May 10, 2016)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028831

OMIM

no assertion criteria provided

Uncertain significance
(May 1, 2014)

germline

literature only

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

SCV000268684

Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq

no assertion criteria provided

Likely benign
(May 10, 2016)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	no	4	not provided	not provided	4	not provided	research

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	research	not provided
2	not provided	1	not provided	not provided	research	not provided
3	not provided	1	not provided	not provided	research	not provided
4	not provided	1	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	1	not provided	discovery		1	not provided	not provided	not provided
2	germline	no	1	not provided	discovery		1	not provided	not provided	not provided
3	germline	no	1	not provided	discovery		1	not provided	not provided	not provided
4	germline	no	1	not provided	discovery		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine