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NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met) AND Autosomal recessive nonsyndromic hearing loss 3

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 16, 2016
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:
RCV000225063.1

Allele description [Variation Report for NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met)]

NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met)

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.6340G>A (p.Val2114Met)
HGVS:
  • NC_000017.11:g.18145938G>A
  • NG_011634.1:g.42233G>A
  • NG_011634.2:g.42233G>A
  • NM_016239.4:c.6340G>AMANE SELECT
  • NP_057323.3:p.Val2114Met
  • NC_000017.10:g.18049252G>A
  • NM_016239.3:c.6340G>A
Protein change:
V2114M
Links:
dbSNP: rs377385081
NCBI 1000 Genomes Browser:
rs377385081
Molecular consequence:
  • NM_016239.4:c.6340G>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000281985Laboratory of Prof. Karen Avraham, Tel Aviv University
no assertion criteria provided
Pathogenic
(Feb 16, 2016) 		germlineresearch

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

Description

NSHL; recessive, DFNB3

SCV000281985

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.

Yang T, Wei X, Chai Y, Li L, Wu H.

Orphanet J Rare Dis. 2013 Jun 14;8:85. doi: 10.1186/1750-1172-8-85.

PubMed [citation]
PMID:
23767834
PMCID:
PMC3703291

Details of each submission

From Laboratory of Prof. Karen Avraham, Tel Aviv University, SCV000281985.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)

Description

Congenital, profound HL

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

Last Updated: Apr 23, 2022