ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)

gnomAD frequency: 0.00001  dbSNP: rs567573386
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590291 SCV000699656 likely pathogenic Bardet-Biedl syndrome 2017-06-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622316 SCV000742127 likely pathogenic Inborn genetic diseases 2017-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000590291 SCV000958736 pathogenic Bardet-Biedl syndrome 2024-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg703*) in the BBS2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the BBS2 protein. This variant is present in population databases (rs567573386, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with BBS2-related disease (PMID: 21344540, 25999675; internal data). ClinVar contains an entry for this variant (Variation ID: 496478). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376258 SCV001573337 likely pathogenic Retinitis pigmentosa 74 2021-04-08 criteria provided, single submitter research The BBS2 c.2107C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
3billion, Medical Genetics RCV001376258 SCV002521102 likely pathogenic Retinitis pigmentosa 74 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.003%). Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by less than 10%. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000496478 / PMID: 21344540). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV000667111 SCV004213980 likely pathogenic Bardet-Biedl syndrome 2 2024-03-20 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817790 SCV005072461 pathogenic Retinal dystrophy 2018-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005019012 SCV005643985 pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-02-29 criteria provided, single submitter clinical testing
Counsyl RCV000667111 SCV000791510 likely pathogenic Bardet-Biedl syndrome 2 2017-05-15 no assertion criteria provided clinical testing
Natera, Inc. RCV000667111 SCV001457430 likely pathogenic Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004530646 SCV004744331 likely pathogenic BBS2-related disorder 2024-01-08 no assertion criteria provided clinical testing The BBS2 c.2107C>T variant is predicted to result in premature protein termination (p.Arg703*). This variant has been reported in the homozygous state or with a second BBS2 variant in individuals with Bardet-Biedl syndrome (Deveault et al. 2011. PubMed ID: 21344540; Supplemental Table 1, Forsythe et al. 2016. PubMed ID: 27659767; Table S3, Fu et al. 2022. PubMed ID: 36307859) and reported in the homozygous state in an individual with retinitis pigmentosa (Xu et al. 2015. PubMed ID: 25999675). In addition, at PreventionGenetics, this variant has been seen in the homozygous or compound heterozygous states in individuals with features of Bardet-Biedl syndrome (Internal Data). This variant is reported in 0.027% of alleles in individuals of East Asian descent in a large population database. Nonsense variants in BBS2 are expected to be pathogenic. This variant is interpreted as likely pathogenic.

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