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NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) AND Rare genetic deafness

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 27, 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:
RCV000151469.4

Allele description [Variation Report for NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)]

NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)

Gene:
MYO6:myosin VI [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.1
Genomic location:
Preferred name:
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
HGVS:
  • NC_000006.12:g.75844906C>T
  • NG_009934.2:g.100714C>T
  • NM_001300899.2:c.826C>T
  • NM_001368136.1:c.826C>T
  • NM_001368137.1:c.826C>T
  • NM_001368138.1:c.811C>T
  • NM_001368865.1:c.826C>T
  • NM_001368866.1:c.826C>T
  • NM_004999.4:c.826C>TMANE SELECT
  • NP_001287828.1:p.Arg276Ter
  • NP_001355065.1:p.Arg276Ter
  • NP_001355066.1:p.Arg276Ter
  • NP_001355067.1:p.Arg271Ter
  • NP_001355794.1:p.Arg276Ter
  • NP_001355795.1:p.Arg276Ter
  • NP_004990.3:p.Arg276Ter
  • LRG_438t1:c.826C>T
  • LRG_438:g.100714C>T
  • LRG_438p1:p.Arg276Ter
  • NC_000006.11:g.76554623C>T
  • NG_009934.1:g.100715C>T
  • NM_004999.3:c.826C>T
  • NR_160538.1:n.1058C>T
  • p.Arg276X
Protein change:
R271*
Links:
dbSNP: rs727503326
NCBI 1000 Genomes Browser:
rs727503326
Molecular consequence:
  • NR_160538.1:n.1058C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001300899.2:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368136.1:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368137.1:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368138.1:c.811C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368865.1:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001368866.1:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004999.4:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000199516Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)
Pathogenic
(Jan 27, 2014)
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, SCV000199516.4

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

Description

The Arg276X variant in MYO6 has not been previously reported in individuals with hearing loss or in large population studies. This variant introduces a prematur e stop codon at position 276 leading to either a truncated or absent protein. I n summary, this variant meets our criteria for pathogenicity (http://pcpgm.partn ers.org/LMM).

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

Last Updated: Jun 23, 2024