NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His) AND Autosomal recessive nonsyndromic hearing loss 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2001
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:: RCV000007370.3

Allele description [Variation Report for NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His)]

NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His)

Gene:

MYO15A:myosin XVA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

Preferred name:

NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His)

HGVS:

NC_000017.11:g.18154190G>T
NG_011634.2:g.50485G>T
NM_016239.4:c.8148G>TMANE SELECT
NP_057323.3:p.Gln2716His
NC_000017.10:g.18057504G>T
NG_011634.1:g.50485G>T
Q9UKN7:p.Gln2716His

Protein change:

Q2716H; GLN2716HIS

Links:

UniProtKB: Q9UKN7#VAR_037964; OMIM: 602666.0006; dbSNP: rs121908969

Molecular consequence:

NM_016239.4:c.8148G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 3
Synonyms:: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
Identifiers:: MONDO: MONDO:0010860; MedGen: C1838263; Orphanet: 90636; OMIM: 600316

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
SCV000027569	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000027569

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2001)

germline

literature only

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

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

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, SCV000027569.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a consanguineous Pakistani family, Liburd et al. (2001) found that 3 deaf (DFNB3; 600316) sibs were homozygous for a G-to-T transversion at nucleotide 8486 in exon 44 of the MYO15A gene, resulting in a gln2716-to-his (Q2716H) substitution.

#	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

Last Updated: Apr 12, 2026

ClinVar

Relating variation to medicine