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NM_020988.3(GNAO1):c.723+1G>T AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 31, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003325916.1

Allele description [Variation Report for NM_020988.3(GNAO1):c.723+1G>T]

NM_020988.3(GNAO1):c.723+1G>T

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+1G>T
HGVS:
  • NC_000016.10:g.56336861G>T
  • NG_042800.1:g.150523G>T
  • NM_020988.3:c.723+1G>TMANE SELECT
  • NM_138736.3:c.723+1G>T
  • NC_000016.9:g.56370773G>T
Molecular consequence:
  • NM_020988.3:c.723+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_138736.3:c.723+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004032037GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Aug 31, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV004032037.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant in a gene or region of a gene for which loss of function is not a well-established mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30103967)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 9, 2023