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NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 4, 2014
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:
RCV000156414.1

Allele description

NM_016239.4(MYO15A):c.5851del (p.Ser1951fs)

Gene:
MYO15A:myosin XVA [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_016239.4(MYO15A):c.5851del (p.Ser1951fs)
HGVS:
  • NC_000017.11:g.18142781del
  • NG_011634.1:g.39076del
  • NG_011634.2:g.39076del
  • NM_016239.4:c.5851delMANE SELECT
  • NP_057323.3:p.Ser1951fs
  • NC_000017.10:g.18046095del
  • NC_000017.10:g.18046095delA
  • NM_016239.3:c.5851delA
  • p.Ser1951ValfsX3
Protein change:
S1951fs
Links:
dbSNP: rs727504995
NCBI 1000 Genomes Browser:
rs727504995
Molecular consequence:
  • NM_016239.4:c.5851del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Nonsyndromic hearing loss and deafness
Synonyms:
Non-syndromic genetic deafness; Nonsyndromic genetic deafness; Nonsyndromic genetic hearing loss
Identifiers:
MONDO: MONDO:0019497; MedGen: CN043648; Orphanet: 87884
Name:
Rare genetic deafness
Identifiers:
MedGen: CN826980; Orphanet: 96210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000206132Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Mar 4, 2014) 		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, Partners HealthCare Personalized Medicine, SCV000206132.4

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

Description

The Ser1951fs variant in MYO15A has not been previously reported in individuals or in large population studies. This variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1951 and lead s to a premature stop codon 3 codons downstream. This alteration is then predict ed to lead to a truncated or absent protein. In summary, this variant meets our criteria for pathogenicity (http://pcpgm.partners.org/LMM).

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

Last Updated: Apr 8, 2022