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

Germline classification:
Pathogenic (4 submissions)
Last evaluated:
Feb 8, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000007704.9

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]
Observations:
1

Condition(s)

Name:
Autosomal dominant centronuclear myopathy
Synonyms:
MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT; Myopathy, centronuclear, 1; Myopathy, centronuclear, 3
Identifiers:
MONDO: MONDO:0008048; MeSH: D020914; MedGen: C4551952; Orphanet: 169189; OMIM: 160150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027905OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2005)
germlineliterature only

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

SCV000245473Baylor Genetics - Adult_WES
criteria provided, single submitter

(Yang et al. 2013)
Pathogenic
(Nov 6, 2013)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV002496132Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Feb 4, 2022)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV002580826MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Feb 8, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyes2not providednot providednot providednot providedclinical testing
Causasiansgermlineyes11not providednot providednot providedclinical testing

Citations

PubMed

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P.

Nat Genet. 2005 Nov;37(11):1207-9. Epub 2005 Oct 16.

PubMed [citation]
PMID:
16227997

Dynamin 2 mutants linked to centronuclear myopathies form abnormally stable polymers.

Wang L, Barylko B, Byers C, Ross JA, Jameson DM, Albanesi JP.

J Biol Chem. 2010 Jul 23;285(30):22753-7. doi: 10.1074/jbc.C110.130013. Epub 2010 Jun 7.

PubMed [citation]
PMID:
20529869
PMCID:
PMC2906265
See all PubMed Citations (9)

Details of each submission

From OMIM, SCV000027905.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a French family with autosomal dominant centronuclear myopathy (CNM1; 160150), Bitoun et al. (2005) identified a heterozygous 1393C-T transition in exon 11 of the DNM2 gene, resulting in an arg465-to-trp (R465W) substitution. This mutation was found in 5 additional families with CNM1, 2 Belgian, 1 German, 1 from Great Britain, and 1 from the United States.

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

From Baylor Genetics - Adult_WES, SCV000245473.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing
(GTR000508680.4)
PubMed (5)

Description

This variant has been previously reported as disease-causing and was found once in our laboratory in a 43-year-old male with centronuclear myopathy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided
(GTR000508680.4)
1not provided1not provided

From Institute of Human Genetics, University Hospital Muenster, SCV002496132.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

ACMG categories: PS3,PM1,PM2,PP3,PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedbloodnot provided1not providednot providednot provided

From MGZ Medical Genetics Center, SCV002580826.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024