NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) AND Autosomal recessive nonsyndromic hearing loss 3

Germline classification:: Likely pathogenic (1 submission)
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:: RCV002225012.1

Allele description [Variation Report for NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg)]

NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg)

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.6442T>A (p.Trp2148Arg)

HGVS:

NC_000017.11:g.18146040T>A
NG_011634.2:g.42335T>A
NM_016239.4:c.6442T>AMANE SELECT
NP_057323.3:p.Trp2148Arg
NC_000017.10:g.18049354T>A

Protein change:

W2148R

Links:

dbSNP: rs2142355107

NCBI 1000 Genomes Browser:

rs2142355107

Molecular consequence:

NM_016239.4:c.6442T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV001984929	Molecular Diagnosis Center for Deafness	criteria provided, single submitter (ClinGen HL ACMG Specifications v1)	Likely pathogenic	maternal	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001984929

Molecular Diagnosis Center for Deafness

criteria provided, single submitter

(ClinGen HL ACMG Specifications v1)

Likely pathogenic

maternal

clinical testing

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	maternal	unknown	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.

Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; et al.

Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.

PubMed [citation]

PMID:: 30311386
PMCID:: PMC6188673

Details of each submission

From Molecular Diagnosis Center for Deafness, SCV001984929.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	unknown	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Sep 29, 2024

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