NM_016239.3(MYO15A):c.6614C>T (p.Thr2205Ile) AND Deafness, with smith-magenis syndrome

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2001)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000007371.2

Allele description

NM_016239.3(MYO15A):c.6614C>T (p.Thr2205Ile)

Gene:
MYO15A:myosin XVA [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_016239.3(MYO15A):c.6614C>T (p.Thr2205Ile)
HGVS:
  • NC_000017.11:g.18148133C>T
  • NG_011634.1:g.44428C>T
  • NM_016239.3:c.6614C>T
  • NP_057323.3:p.Thr2205Ile
  • NC_000017.10:g.18051447C>T
  • Q9UKN7:p.Thr2205Ile
  • c.6614C>T
Protein change:
T2205I; THR2205ILE
Links:
UniProtKB: Q9UKN7#VAR_037961; OMIM: 602666.0007; dbSNP: rs121908970
GMAF:
0.0010(T), 121908970
NCBI 1000 Genomes Browser:
rs121908970
Allele Frequency:
0.0028, GO-ESP
Molecular consequence:
  • NM_016239.3:c.6614C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, with smith-magenis syndrome
Identifiers:
MedGen: C4016803

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027570OMIMno assertion criteria providedPathogenic
(Nov 1, 2001)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome.

Liburd N, Ghosh M, Riazuddin S, Naz S, Khan S, Ahmed Z, Riazuddin S, Liang Y, Menon PS, Smith T, Smith AC, Chen KS, Lupski JR, Wilcox ER, Potocki L, Friedman TB.

Hum Genet. 2001 Nov;109(5):535-41. Epub 2001 Oct 3.

PubMed [citation]
PMID:
11735029

Details of each submission

From OMIM, SCV000027570.1

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

Description

In 1 of 8 patients from North America with Smith-Magenis syndrome (SMS; 182290) due to deletion in 17p11.2, Liburd et al. (2001) found that moderately severe sensorineural hearing loss (DFNB3; 600316) was associated with hemizygosity for a C-to-T transition at nucleotide 6952 of the MYO15A gene, resulting in a thr2205-to-ile (T2205I) substitution. The mother, who had normal hearing, was heterozygous for T2205I. Thus, the SMS deletion in this patient appeared to have occurred in a gamete from the father.

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

Last Updated: Apr 7, 2017