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NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 20, 2017
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:
RCV000610556.4

Allele description [Variation Report for NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg)]

NM_016239.4(MYO15A):c.7436A>G (p.Gln2479Arg)

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.7436A>G (p.Gln2479Arg)
HGVS:
  • NC_000017.11:g.18150876A>G
  • NG_011634.2:g.47171A>G
  • NM_016239.4:c.7436A>GMANE SELECT
  • NP_057323.3:p.Gln2479Arg
  • NC_000017.10:g.18054190A>G
  • NG_011634.1:g.47171A>G
  • NM_016239.3:c.7436A>G
Protein change:
Q2479R
Links:
dbSNP: rs756565842
NCBI 1000 Genomes Browser:
rs756565842
Molecular consequence:
  • NM_016239.4:c.7436A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000731791Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Uncertain significance
(Jul 20, 2017)
germlineclinical testing

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

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, SCV000731791.1

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

Description

The p.Gln2479Arg variant in MYO15A has not been previously reported in individua ls with hearing loss, but has been reported in ClinVar (Variation ID# 322160) as of uncertain significant. This variant has been identified in 5/15380 East Asi an chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadin stitute.org; dbSNP rs756565842). Computational prediction tools and conservatio n analyses do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Gln2479Arg variant is uncertain .

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

Last Updated: Sep 29, 2024