NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000756033.3

Allele description [Variation Report for NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)]

NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)

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.958G>A (p.Asp320Asn)
HGVS:
  • NC_000019.10:g.10786672G>A
  • NG_008792.1:g.73594G>A
  • NM_001005360.3:c.958G>A
  • NM_001005361.3:c.958G>AMANE SELECT
  • NM_001005362.3:c.958G>A
  • NM_001190716.2:c.958G>A
  • NM_004945.4:c.958G>A
  • NP_001005360.1:p.Asp320Asn
  • NP_001005360.1:p.Asp320Asn
  • NP_001005361.1:p.Asp320Asn
  • NP_001005362.1:p.Asp320Asn
  • NP_001177645.1:p.Asp320Asn
  • NP_004936.2:p.Asp320Asn
  • LRG_238t1:c.958G>A
  • LRG_238:g.73594G>A
  • LRG_238p1:p.Asp320Asn
  • NC_000019.9:g.10897348G>A
  • NM_001005360.2:c.958G>A
Protein change:
D320N
Links:
dbSNP: rs150613209
NCBI 1000 Genomes Browser:
rs150613209
Molecular consequence:
  • NM_001005360.3:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005361.3:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005362.3:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190716.2:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004945.4:c.958G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000883738ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jun 14, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883738.1

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

Description

The p.Asp320Asn variant (rs150613209) has not been reported in the medical literature, nor has it been previously identified in our laboratory; however, it is listed in the ClinVar database (Variation ID: 158529). This variant is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.01% (identified in 33 out of 276,996 chromosomes). The aspartic acid at codon 320 is moderately conserved considering 14 species (Alamut software v2.9), and computational analyses return mixed results regarding the effect of this variant on DNM2 protein structure/function (SIFT: tolerated, PolyPhen2: benign, and Mutation Taster: disease causing). Therefore, based on the available information, the clinical significance of the p.Asp320Asn variant cannot be determined with certainty.

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

Last Updated: Dec 4, 2021

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