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NM_020988.3(GNAO1):c.723+2T>A AND Neurodevelopmental disorder with involuntary movements

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 2, 2021
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:
RCV001374408.3

Allele description [Variation Report for NM_020988.3(GNAO1):c.723+2T>A]

NM_020988.3(GNAO1):c.723+2T>A

Gene:
GNAO1:G protein subunit alpha o1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q13
Genomic location:
Preferred name:
NM_020988.3(GNAO1):c.723+2T>A
HGVS:
  • NC_000016.10:g.56336862T>A
  • NG_042800.1:g.150524T>A
  • NM_020988.3:c.723+2T>AMANE SELECT
  • NM_138736.3:c.723+2T>A
  • NC_000016.9:g.56370774T>A
  • NM_020988.2:c.723+2T>A
Links:
dbSNP: rs2143665312
NCBI 1000 Genomes Browser:
rs2143665312
Molecular consequence:
  • NM_020988.3:c.723+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_138736.3:c.723+2T>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Neurodevelopmental disorder with involuntary movements (NEDIM)
Identifiers:
MONDO: MONDO:0060491; MedGen: C4479569; OMIM: 617493

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001571220Clinical Genetics Service, Universitary Hospital 12 de Octubre
no assertion criteria provided
Pathogenic
(Jun 2, 2021) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genetics Service, Universitary Hospital 12 de Octubre, SCV001571220.2

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

Last Updated: Dec 24, 2023