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NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) AND Autosomal recessive nonsyndromic hearing loss 3

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 3, 2015
Review status:
no classification 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:
RCV000185567.2

Allele description [Variation Report for NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)]

NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr)

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.10054G>A (p.Ala3352Thr)
HGVS:
  • NC_000017.11:g.18167695G>A
  • NG_011634.2:g.63990G>A
  • NM_016239.4:c.10054G>AMANE SELECT
  • NP_057323.3:p.Ala3352Thr
  • NC_000017.10:g.18071009G>A
  • NG_011634.1:g.63990G>A
  • NM_016239.3:c.10054G>A
Protein change:
A3352T
Links:
dbSNP: rs367863299
NCBI 1000 Genomes Browser:
rs367863299
Molecular consequence:
  • NM_016239.4:c.10054G>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000238458Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq
no classification provided
not providedgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Division of Human Genetics, Children's Hospital of Philadelphia - CSER-PediSeq, SCV000238458.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

This variant (NM_016239.3:c.10054G>A;p.A3352T) is considered a variant of uncertain significance as it has not been reported in literature and is present in 0.01% of alleles in ExAC 0.3 (15/119,824) with no homozygotes. This variant occurs in the FERM protein domain at a highly conserved amino acid and nucleotide position.

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

Last Updated: May 16, 2025