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)

Other names:

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

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000329337	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Dec 8, 2022)	germline	clinical testing	Citation Link,
SCV001798200	Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) - VKGL Data-share Consensus	no assertion criteria provided	Likely pathogenic	germline	clinical testing
SCV001928735	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV001956266	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Pathogenic	germline	clinical testing
SCV002021726	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 25, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not 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)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV002021726.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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