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NM_001005361.3(DNM2):c.386-6T>A AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 1, 2020
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:
RCV002365537.9

Allele description [Variation Report for NM_001005361.3(DNM2):c.386-6T>A]

NM_001005361.3(DNM2):c.386-6T>A

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.386-6T>A
HGVS:
  • NC_000019.10:g.10775697T>A
  • NG_008792.1:g.62619T>A
  • NM_001005360.3:c.386-6T>A
  • NM_001005361.3:c.386-6T>AMANE SELECT
  • NM_001005362.3:c.386-6T>A
  • NM_001190716.2:c.386-6T>A
  • NM_004945.4:c.386-6T>A
  • LRG_238t1:c.386-6T>A
  • LRG_238:g.62619T>A
  • NC_000019.9:g.10886373T>A
  • NM_001005360.2:c.386-6T>A
Links:
dbSNP: rs114623441
NCBI 1000 Genomes Browser:
rs114623441
Molecular consequence:
  • NM_001005360.3:c.386-6T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005361.3:c.386-6T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005362.3:c.386-6T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001190716.2:c.386-6T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004945.4:c.386-6T>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002624227Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Dec 1, 2020) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002624227.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 24, 2024