U.S. flag

An official website of the United States government

NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 8, 2015
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:
RCV000214976.4

Allele description [Variation Report for NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter)]

NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter)

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.5896C>T (p.Arg1966Ter)
HGVS:
  • NC_000017.11:g.18142826C>T
  • NG_011634.2:g.39121C>T
  • NM_016239.4:c.5896C>TMANE SELECT
  • NP_057323.3:p.Arg1966Ter
  • NC_000017.10:g.18046140C>T
  • NG_011634.1:g.39121C>T
  • NM_016239.3:c.5896C>T
  • p.Arg1966X
Protein change:
R1966*
Links:
dbSNP: rs765468034
NCBI 1000 Genomes Browser:
rs765468034
Molecular consequence:
  • NM_016239.4:c.5896C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Rare genetic deafness
Identifiers:
MedGen: C5680250; Orphanet: 96210

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000271415Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Jun 8, 2015) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000271415.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Arg1966X variant in MYO15A has not been previously reported in individuals with hearing loss, but has been identified in 1/53826 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Although this variant has been seen in the general population, its frequency is low enou gh to be consistent with a recessive carrier frequency. This nonsense variant le ads to a premature termination codon at position 1966, which is predicted to lea d to a truncated or absent protein. Loss of function of the MYO15A gene is an es tablished disease mechanism in autosomal recessive nonsyndromic hearing loss. In summary, this variant meets our criteria to be classified as pathogenic for non syndromic hearing loss in an autosomal recessive manner (www.partners.org/person alizedmedicine/lmm), based on the predicted impact of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Sep 29, 2024