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NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 26, 2018
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:
RCV000825967.4

Allele description [Variation Report for NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn)]

NM_016239.4(MYO15A):c.8239G>A (p.Asp2747Asn)

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.8239G>A (p.Asp2747Asn)
HGVS:
  • NC_000017.11:g.18155124G>A
  • NG_011634.2:g.51419G>A
  • NM_016239.4:c.8239G>AMANE SELECT
  • NP_057323.3:p.Asp2747Asn
  • NC_000017.10:g.18058438G>A
  • NG_011634.1:g.51419G>A
  • NM_016239.3:c.8239G>A
  • p.Asp2747Asn
Protein change:
D2747N
Links:
dbSNP: rs374160194
NCBI 1000 Genomes Browser:
rs374160194
Molecular consequence:
  • NM_016239.4:c.8239G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000967455Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Sep 26, 2018) 		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, SCV000967455.1

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

Description

The p.Asp2747Asn variant in MYO15A has not been previously reported in individua ls with hearing loss but has been identified in 0.007% (9/125916) of European ch romosomes and 0.008% (2/23862) of African chromosomes by gnomAD (http://gnomad.b roadinstitute.org). This variant has been reported in ClinVar (Variation ID 3221 70). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this varia nt is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3.

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

Last Updated: Sep 29, 2024