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NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) AND Rare genetic deafness

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 25, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000036134.7

Allele description [Variation Report for NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)]

NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn)

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.401T>A (p.Ile134Asn)
Other names:
NM_000260.4(MYO7A):c.401T>A
HGVS:
  • NC_000011.10:g.77156022T>A
  • NG_009086.2:g.32777T>A
  • NM_000260.4:c.401T>AMANE SELECT
  • NM_001127180.2:c.401T>A
  • NM_001369365.1:c.368T>A
  • NP_000251.3:p.Ile134Asn
  • NP_001120652.1:p.Ile134Asn
  • NP_001356294.1:p.Ile123Asn
  • LRG_1420t1:c.401T>A
  • LRG_1420:g.32777T>A
  • LRG_1420p1:p.Ile134Asn
  • NC_000011.9:g.76867068T>A
  • NG_009086.1:g.32759T>A
  • NM_000260.3:c.401T>A
  • Q13402:p.Ile134Asn
  • c.401T>A
Protein change:
I123N
Links:
UniProtKB: Q13402#VAR_024042; dbSNP: rs111033181
NCBI 1000 Genomes Browser:
rs111033181
Molecular consequence:
  • NM_000260.4:c.401T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127180.2:c.401T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369365.1:c.368T>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
3

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000059786Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Likely pathogenic
(Mar 25, 2011)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided43not providednot providednot providedclinical testing

Citations

PubMed

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

Bharadwaj AK, Kasztejna JP, Huq S, Berson EL, Dryja TP.

Exp Eye Res. 2000 Aug;71(2):173-81.

PubMed [citation]
PMID:
10930322

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000059786.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (2)

Description

The Ile134Asn variant in MYO7A has been reported in one proband with Usher syndr ome Type I and was absent in 172 control chromosomes (Bharadwaj 2000). We have a lso observed this variant in another patient with Usher syndrome with a pathogen ic variant on the other allele. In addition, this residue is highly conserved ac ross species and computational analyses (biochemical amino acid properties, homo logy, PolyPhen2, SIFT) suggest that the variant may impact the protein. In summa ry, this data suggests this variant is likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided3not provided

Last Updated: Feb 1, 2025