ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.157-2A>G (rs113994192)

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
Invitae RCV000020932 SCV001224648 pathogenic Bardet-Biedl syndrome 2019-12-12 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the BBS4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs113994192, ExAC 0.009%). This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 12016587, 19858128). It has also been observed to segregate with disease in related individuals. This variant is also known as IVS3-2A>G or c.178-2A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 9147). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009718 SCV000029936 pathogenic Bardet-Biedl syndrome 4 2002-07-01 no assertion criteria provided literature only
GeneReviews RCV000020932 SCV000041548 pathologic Bardet-Biedl syndrome 2009-10-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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.