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NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys) AND Neurodevelopmental disorder with hyperkinetic movements and dyskinesia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 13, 2023
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:
RCV003493383.1

Allele description [Variation Report for NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys)]

NM_183357.3(ADCY5):c.3622C>T (p.Arg1208Cys)

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.3622C>T (p.Arg1208Cys)
Other names:
p.Arg1208Cys
HGVS:
  • NC_000003.12:g.123286720G>A
  • NG_033882.1:g.166826C>T
  • NM_001199642.1:c.2572C>T
  • NM_001378259.1:c.3697C>T
  • NM_183357.3:c.3622C>TMANE SELECT
  • NP_001186571.1:p.Arg858Cys
  • NP_001365188.1:p.Arg1233Cys
  • NP_899200.1:p.Arg1208Cys
  • NC_000003.11:g.123005567G>A
  • NM_183357.2:c.3622C>T
Protein change:
R1208C
Molecular consequence:
  • NM_001199642.1:c.2572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001378259.1:c.3697C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183357.3:c.3622C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
Identifiers:
MONDO: MONDO:0859211; MedGen: C5562038; OMIM: 619651

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004242195Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
no assertion criteria provided
Likely pathogenic
(Sep 13, 2023) 		unknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV004242195.1

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

Last Updated: Feb 14, 2024