ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.440del (p.Phe147fs)

dbSNP: rs1433422530
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208815 SCV001380223 pathogenic Bardet-Biedl syndrome 2022-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 939414). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Phe147Serfs*54) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167).
PreventionGenetics, part of Exact Sciences RCV004538446 SCV004117123 likely pathogenic BBS2-related disorder 2023-06-13 criteria provided, single submitter clinical testing The BBS2 c.440delT variant is predicted to result in a frameshift and premature protein termination (p.Phe147Serfs*54). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56545101-GA-G). Frameshift variants in BBS2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Baylor Genetics RCV003462697 SCV004214020 likely pathogenic Bardet-Biedl syndrome 2 2023-08-03 criteria provided, single submitter clinical testing

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