ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.472-2A>G

dbSNP: rs137854887
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001852022 SCV002229408 pathogenic Bardet-Biedl syndrome 2023-12-25 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the BBS2 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20618352, 22981120). It is commonly reported in individuals of Hutterite ancestry (PMID: 20618352, 22981120). ClinVar contains an entry for this variant (Variation ID: 30550). Studies have shown that disruption of this splice site results in skipping of exon 4 and exons 3-4, but is expected to preserve the integrity of the reading-frame (PMID: 20618352). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV004532399 SCV004117545 pathogenic BBS2-related disorder 2023-08-04 criteria provided, single submitter clinical testing The BBS2 c.472-2A>G variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant was reported in multiple individuals with Bardet-Biedl syndrome and is well known founder mutation in Hutterite population (Innes et al. 2010. PubMed ID: 20618352; Chong et al. 2012. PubMed ID: 22981120). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56544835-T-C). Variants that disrupt the consensus splice acceptor site in BBS2 are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000023507 SCV000044798 pathogenic Bardet-Biedl syndrome 2 2012-10-05 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.