NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) AND not specified

Clinical significance:Benign (Last evaluated: Sep 25, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000433210.5

Allele description [Variation Report for NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)]

NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)

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.2061G>A (p.Thr687=)
HGVS:
  • NC_000019.10:g.10829038G>A
  • NG_008792.1:g.115960G>A
  • NM_001005360.2:c.2061G>A
  • NM_001005360.3:c.2061G>A
  • NM_001005361.3:c.2061G>AMANE SELECT
  • NM_001005362.3:c.2049G>A
  • NM_001190716.2:c.2061G>A
  • NM_004945.4:c.2049G>A
  • NP_001005360.1:p.Thr687=
  • NP_001005360.1:p.Thr687=
  • NP_001005361.1:p.Thr687=
  • NP_001005362.1:p.Thr683=
  • NP_001177645.1:p.Thr687=
  • NP_004936.2:p.Thr683=
  • LRG_238t1:c.2061G>A
  • LRG_238:g.115960G>A
  • LRG_238p1:p.Thr687=
  • NC_000019.9:g.10939714G>A
Links:
dbSNP: rs149164657
NCBI 1000 Genomes Browser:
rs149164657
Molecular consequence:
  • NM_001005360.2:c.2061G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001005360.3:c.2061G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001005361.3:c.2061G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001005362.3:c.2049G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001190716.2:c.2061G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004945.4:c.2049G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000594386Genetic Services Laboratory,University of Chicagocriteria provided, single submitter
Benign
(Jul 1, 2016)
germlineclinical testing

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

SCV001476405Athena Diagnostics Inccriteria provided, single submitter
Benign
(Sep 25, 2019)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot 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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Genetic Services Laboratory,University of Chicago, SCV000594386.1

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

From Athena Diagnostics Inc, SCV001476405.1

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

Last Updated: Oct 30, 2021

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