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NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) AND not provided

Germline classification:
Pathogenic (5 submissions)
Last evaluated:
Sep 25, 2023
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:
RCV000373773.12

Allele description [Variation Report for NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)]

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000329337GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Pathogenic
(Dec 8, 2022)
germlineclinical testing

Citation Link,

SCV001798200Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus
no assertion criteria provided
Likely pathogenicgermlineclinical testing

SCV001928735Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Pathogenicgermlineclinical testing

SCV001956266Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Pathogenicgermlineclinical testing

SCV002021726Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Sep 25, 2023)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From GeneDx, SCV000329337.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Published functional studies demonstrate that R465W increases GTPase activity and leads to a highly stable dynamin complex that is resistant to normal disassembly; knock-in mice show muscle defects, progressive atrophy, and muscle biopsy changes similar to humans (Cowling et al., 2011; Wang et al., 2010; Durieux et al., 2010); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26908122, 26199319, 27447704, 22369075, 16227997, 19623537, 20227276, 26633545, 22613877, 22451505, 22096584, 21762456, 21514436, 20529869, 28466468, 28740838, 19130742, 31017801, 31628461, 29246969, 32721234, 35282416, 33187981, 33097808, 35244154, 34595679, 35217605, 30291191, 32315611, 34463354, 20858595)

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

From Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus, SCV001798200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001928735.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001956266.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Revvity Omics, Revvity, SCV002021726.3

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

Last Updated: May 7, 2024