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NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) AND Centronuclear myopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 8, 2013
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:
RCV000145902.6

Allele description

NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)

Gene:
DNM2:dynamin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
HGVS:
  • NC_000019.10:g.10798543C>T
  • NG_008792.1:g.85465C>T
  • NM_001005360.3:c.1393C>T
  • NM_001005361.3:c.1393C>TMANE SELECT
  • NM_001005362.3:c.1393C>T
  • NM_001190716.2:c.1393C>T
  • NM_004945.4:c.1393C>T
  • NP_001005360.1:p.Arg465Trp
  • NP_001005360.1:p.Arg465Trp
  • NP_001005361.1:p.Arg465Trp
  • NP_001005362.1:p.Arg465Trp
  • NP_001177645.1:p.Arg465Trp
  • NP_004936.2:p.Arg465Trp
  • LRG_238t1:c.1393C>T
  • LRG_238:g.85465C>T
  • LRG_238p1:p.Arg465Trp
  • NC_000019.9:g.10909219C>T
  • NM_001005360.2:c.1393C>T
  • NM_001005361.3:c.1393C>T
  • P50570:p.Arg465Trp
Protein change:
R465W; ARG465TRP
Links:
UniProtKB: P50570#VAR_031965; OMIM: 602378.0006; dbSNP: rs121909091
NCBI 1000 Genomes Browser:
rs121909091
Molecular consequence:
  • NM_001005360.3:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005361.3:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005362.3:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190716.2:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004945.4:c.1393C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Centronuclear myopathy (CNM)
Synonyms:
Myotubular myopathy; Centronuclear myopathy, congenital
Identifiers:
MONDO: MONDO:0018947; MedGen: C0175709; OMIM: PS160150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000193039Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)
Pathogenic
(Feb 8, 2013)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000193039.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 16, 2024