NM_183357.3(ADCY5):c.2088+1G>T AND Dyskinesia with orofacial involvement, autosomal dominant

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 17, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000190498.1

Allele description [Variation Report for NM_183357.3(ADCY5):c.2088+1G>T]

NM_183357.3(ADCY5):c.2088+1G>T

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.2088+1G>T

HGVS:

NC_000003.12:g.123325321C>A
NG_033882.1:g.128225G>T
NM_001199642.1:c.1038+1G>T
NM_001378259.1:c.2088+1G>T
NM_183357.3:c.2088+1G>TMANE SELECT
NC_000003.11:g.123044168C>A

Links:

dbSNP: rs797045002

NCBI 1000 Genomes Browser:

rs797045002

Molecular consequence:

NM_001199642.1:c.1038+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001378259.1:c.2088+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
NM_183357.3:c.2088+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000245384	Mendelics	no assertion criteria provided	Pathogenic (Nov 17, 2014)	de novo	clinical testing	PubMed (2) [See all records that cite these PMIDs] 22782511, 24700542

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000245384

Mendelics

no assertion criteria provided

Pathogenic
(Nov 17, 2014)

de novo

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH.

Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54.

PubMed [citation]

PMID:: 22782511
PMCID:: PMC3508680

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, et al.

Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13.

PubMed [citation]

PMID:: 24700542
PMCID:: PMC4457323

Details of each submission

From Mendelics, SCV000245384.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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