ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1371del (p.Lys458fs)

dbSNP: rs2144143132
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381231 SCV001579538 pathogenic Bardet-Biedl syndrome 2020-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). This variant has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 21052717). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys458Argfs*29) in the BBS2 gene. It is expected to result in an absent or disrupted protein product.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001381231 SCV003923219 likely pathogenic Bardet-Biedl syndrome 2023-03-17 criteria provided, single submitter clinical testing Variant summary: BBS2 c.1371delG (p.Lys458ArgfsX29) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251458 control chromosomes (gnomAD). c.1371delG has been reported in the literature in an individual affected with Bardet-Biedl Syndrome (Janssen_2011). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted a clinical-significance assessment for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
PreventionGenetics, part of Exact Sciences RCV004531192 SCV004120986 pathogenic BBS2-related disorder 2022-09-15 criteria provided, single submitter clinical testing The BBS2 c.1371delG variant is predicted to result in a frameshift and premature protein termination (p.Lys458Argfs*29). This variant was reported along with a second apparently disease-causing BBS2 variant in an individual with Bardet-Biedl syndrome (Janssen et al 2011. PubMed ID: 21052717). This variant has not been reported in a large population database (, indicating this variant is rare. Frameshift variants in BBS2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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