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NM_006496.4(GNAI3):c.303+1G>A AND Auriculocondylar syndrome 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 28, 2020
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:
RCV001270776.4

Allele description [Variation Report for NM_006496.4(GNAI3):c.303+1G>A]

NM_006496.4(GNAI3):c.303+1G>A

Gene:
GNAI3:G protein subunit alpha i3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p13.3
Genomic location:
Preferred name:
NM_006496.4(GNAI3):c.303+1G>A
HGVS:
  • NC_000001.11:g.109574038G>A
  • NG_032795.1:g.30475G>A
  • NM_006496.4:c.303+1G>AMANE SELECT
  • NC_000001.10:g.110116660G>A
  • NM_006496.3:c.303+1G>A
Links:
dbSNP: rs1648676750
NCBI 1000 Genomes Browser:
rs1648676750
Molecular consequence:
  • NM_006496.4:c.303+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Auriculocondylar syndrome 1 (ARCND1)
Identifiers:
MONDO: MONDO:0011234; MedGen: C4551996; Orphanet: 137888; OMIM: 602483

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001451535Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Uncertain significance
(May 28, 2020) 		unknownclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.

Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR.

Eur J Hum Genet. 2015 Apr;23(4):481-5. doi: 10.1038/ejhg.2014.132. Epub 2014 Jul 16.

PubMed [citation]
PMID:
25026904
PMCID:
PMC4666574

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001451535.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The GNAI3 c.303+1G>A variant occurs at a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. Currently only missense variants have been associated with disease and loss-of-function has not been established as a mechanism of disease (Tavares et al. 2015). Based on the limited evidence, the c.303+1G>A variant is classified as a variant of uncertain significance for auriculocondylar syndrome.

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

Last Updated: Jun 10, 2023