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NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 28, 2022
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:
RCV003106093.3

Allele description [Variation Report for NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)]

NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)

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.869G>A (p.Arg290Gln)
HGVS:
  • NC_000019.10:g.10786583G>A
  • NG_008792.1:g.73505G>A
  • NM_001005360.3:c.869G>A
  • NM_001005361.3:c.869G>AMANE SELECT
  • NM_001005362.3:c.869G>A
  • NM_001190716.2:c.869G>A
  • NM_004945.4:c.869G>A
  • NP_001005360.1:p.Arg290Gln
  • NP_001005360.1:p.Arg290Gln
  • NP_001005361.1:p.Arg290Gln
  • NP_001005362.1:p.Arg290Gln
  • NP_001177645.1:p.Arg290Gln
  • NP_004936.2:p.Arg290Gln
  • LRG_238t1:c.869G>A
  • LRG_238:g.73505G>A
  • LRG_238p1:p.Arg290Gln
  • NC_000019.9:g.10897259G>A
  • NM_001005360.2:c.869G>A
Protein change:
R290Q
Links:
dbSNP: rs117398902
NCBI 1000 Genomes Browser:
rs117398902
Molecular consequence:
  • NM_001005360.3:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005361.3:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005362.3:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190716.2:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004945.4:c.869G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003761766GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jul 28, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV003761766.2

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

Description

Identified in a patient with congenital myopathy, but it is unknown whether this individual was tested for variants in other genes associated with congenital myopathy (Natera-de Benito et al., 2021); Reported in a patient with hereditary neuropathy; however, familial segregation information was not included (Taghizadeh et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (HGMD); This variant is associated with the following publications: (PMID: 16227997, 33333461, 32657593)

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

Last Updated: Sep 29, 2024