NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr) AND Autosomal recessive nonsyndromic hearing loss 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 29, 1998
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:: RCV000007366.3

Allele description [Variation Report for NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr)]

NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr)

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.6331A>T (p.Asn2111Tyr)

Other names:

N890Y

HGVS:

NC_000017.11:g.18145929A>T
NG_011634.2:g.42224A>T
NM_016239.4:c.6331A>TMANE SELECT
NP_057323.3:p.Asn2111Tyr
NC_000017.10:g.18049243A>T
NG_011634.1:g.42224A>T
Q9UKN7:p.Asn2111Tyr

Protein change:

N2111Y; ASN890TYR

Links:

UniProtKB: Q9UKN7#VAR_010303; OMIM: 602666.0002; dbSNP: rs121908966

NCBI 1000 Genomes Browser:

rs121908966

Molecular consequence:

NM_016239.4:c.6331A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027565	OMIM	no assertion criteria provided	Pathogenic (May 29, 1998)	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

SCV000027565

OMIM

no assertion criteria provided

Pathogenic
(May 29, 1998)

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

Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.

Wang A, Liang Y, Fridell RA, Probst FJ, Wilcox ER, Touchman JW, Morton CC, Morell RJ, Noben-Trauth K, Camper SA, Friedman TB.

Science. 1998 May 29;280(5368):1447-51.

PubMed [citation]

PMID:: 9603736

Details of each submission

From OMIM, SCV000027565.1

#	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 Indian family, Wang et al. (1998) found that individuals with congenital deafness (DFNB3; 600316) were homozygous for an asn890-to-tyr (N890Y) missense mutation in the MYO15 gene.

#	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: Jun 29, 2024

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