U.S. flag

An official website of the United States government

NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile) AND Autosomal dominant nonsyndromic hearing loss 11

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2004
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:
RCV000012638.19

Allele description [Variation Report for NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)]

NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)

Gene:
MYO7A:myosin VIIA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.5
Genomic location:
Preferred name:
NM_000260.4(MYO7A):c.1373A>T (p.Asn458Ile)
HGVS:
  • NC_000011.10:g.77162149A>T
  • NG_009086.2:g.38904A>T
  • NM_000260.4:c.1373A>TMANE SELECT
  • NM_001127180.2:c.1373A>T
  • NM_001369365.1:c.1340A>T
  • NP_000251.3:p.Asn458Ile
  • NP_001120652.1:p.Asn458Ile
  • NP_001356294.1:p.Asn447Ile
  • LRG_1420t1:c.1373A>T
  • LRG_1420:g.38904A>T
  • LRG_1420p1:p.Asn458Ile
  • NC_000011.9:g.76873195A>T
  • NG_009086.1:g.38886A>T
  • Q13402:p.Asn458Ile
Protein change:
N447I; ASN458ILE
Links:
UniProtKB: Q13402#VAR_027306; OMIM: 276903.0015; dbSNP: rs121965084
NCBI 1000 Genomes Browser:
rs121965084
Molecular consequence:
  • NM_000260.4:c.1373A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.1373A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.1340A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 11
Synonyms:
Deafness, autosomal dominant 11
Identifiers:
MONDO: MONDO:0011032; MedGen: C1832475; Orphanet: 90635; OMIM: 601317

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
SCV000032873OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2004) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H.

Hum Genet. 2004 Jul;115(2):149-56. Epub 2004 Jun 2.

PubMed [citation]
PMID:
15221449

Details of each submission

From OMIM, SCV000032873.3

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

Description

In affected members of a Dutch family with autosomal dominant nonsyndromic sensorineural deafness (DFNA11; 601317), Luijendijk et al. (2004) identified a heterozygous 1373A-T transversion in exon 13 of the MYO7A gene, resulting in an asn458-to-ile (N458I) substitution. In a molecular model, the mutant protein was predicted to disrupt ATP binding and impair the myosin power stroke.

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

Last Updated: Sep 29, 2024