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NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln) AND Dyskinesia with orofacial involvement, autosomal dominant

Germline classification:
Pathogenic (4 submissions)
Last evaluated:
Dec 30, 2022
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:
RCV000202572.17

Allele description [Variation Report for NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln)]

NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln)

Gene:
ADCY5:adenylate cyclase 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.1
Genomic location:
Preferred name:
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln)
HGVS:
  • NC_000003.12:g.123352463C>T
  • NG_033882.1:g.101083G>A
  • NM_001199642.1:c.203G>A
  • NM_001378259.1:c.1253G>A
  • NM_183357.3:c.1253G>AMANE SELECT
  • NP_001186571.1:p.Arg68Gln
  • NP_001365188.1:p.Arg418Gln
  • NP_899200.1:p.Arg418Gln
  • NP_899200.1:p.Arg418Gln
  • NP_899200.1:p.Arg418Gln
  • NC_000003.11:g.123071310C>T
  • NM_183357.2:c.1253G>A
Protein change:
R418Q
Links:
dbSNP: rs864309515
NCBI 1000 Genomes Browser:
rs864309515
Molecular consequence:
  • NM_001199642.1:c.203G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378259.1:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183357.3:c.1253G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Dyskinesia with orofacial involvement, autosomal dominant (DSKOD)
Synonyms:
Dyskinesia, familial, with facial myokymia; Familial dyskinesia and facial myokymia
Identifiers:
MONDO: MONDO:0800028; MedGen: C5551343; Orphanet: 324588; OMIM: 606703

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000257543GeneReviews
no classification provided
not providedgermlineliterature only

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

SCV001787119Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India
no assertion criteria provided
Likely pathogenicde novoclinical testing

SCV002764997Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)
Pathogenic
(Jun 10, 2021)
germlineclinical testing

Citation Link,

SCV002775063Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Dec 30, 2022)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing, literature only
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, et al.

Neurology. 2015 Dec 8;85(23):2026-35. doi: 10.1212/WNL.0000000000002058. Epub 2015 Nov 4.

PubMed [citation]
PMID:
26537056
PMCID:
PMC4676753

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 GeneReviews, SCV000257543.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV001787119.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764997.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV002775063.1

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

Last Updated: Jun 9, 2024