NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp) AND Dyskinesia with orofacial involvement, autosomal dominant

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: May 28, 2019
Review status:: criteria provided, conflicting classifications

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:: RCV000987317.5

Allele description [Variation Report for NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)]

NM_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)

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.1902G>C (p.Glu634Asp)

HGVS:

NC_000003.12:g.123327663C>G
NG_033882.1:g.125883G>C
NM_001199642.1:c.852G>C
NM_001378259.1:c.1902G>C
NM_183357.3:c.1902G>CMANE SELECT
NP_001186571.1:p.Glu284Asp
NP_001365188.1:p.Glu634Asp
NP_899200.1:p.Glu634Asp
NP_899200.1:p.Glu634Asp
NC_000003.11:g.123046510C>G
NM_183357.2:c.1902G>C

Protein change:

E284D

Links:

dbSNP: rs61734561

NCBI 1000 Genomes Browser:

rs61734561

Molecular consequence:

NM_001199642.1:c.852G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001378259.1:c.1902G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_183357.3:c.1902G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV001136582	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV001428956	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 10, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001136582

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Likely benign
(May 28, 2019)

unknown

clinical testing

Citation Link,

SCV001428956

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 10, 2016)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Mendelics, SCV001136582.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

From Institute of Human Genetics, University of Leipzig Medical Center, SCV001428956.1

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

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

Last Updated: Apr 15, 2024

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