ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1911-1G>A

dbSNP: rs1555520256
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673371 SCV000798567 likely pathogenic Bardet-Biedl syndrome 2 2018-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855595 SCV002275191 likely pathogenic Bardet-Biedl syndrome 2023-07-13 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 557254). Disruption of this splice site has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 15 of the BBS2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167).
PreventionGenetics, part of Exact Sciences RCV004732996 SCV005354473 likely pathogenic BBS2-related disorder 2023-10-27 no assertion criteria provided clinical testing The BBS2 c.1911-1G>A variant is predicted to disrupt the AG splice acceptor site and interfere with normal splicing. This variant was reported in a carrier screening paper; however, to our knowledge it has not been reported in any individuals with BBS2 related disorders (Capalbo et al. 2019. PubMed ID: 31589614). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice acceptor site in BBS2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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