ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)

gnomAD frequency: 0.00001  dbSNP: rs779690256
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669549 SCV000794311 pathogenic Bardet-Biedl syndrome 2 2017-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000815857 SCV000956332 pathogenic Bardet-Biedl syndrome 2024-02-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg234*) 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). This variant is present in population databases (rs779690256, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with clinical features of a ciliopathy disorder (PMID: 15666242, 27894351). ClinVar contains an entry for this variant (Variation ID: 554001). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000815857 SCV001361414 pathogenic Bardet-Biedl syndrome 2019-08-05 criteria provided, single submitter clinical testing Variant summary: BBS2 c.700C>T (p.Arg234X) 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. The variant allele was found at a frequency of 2.8e-05 in 251228 control chromosomes (gnomAD). c.700C>T has been reported in the literature in compound heterozygous and homozygous states in individuals affected with Bardet-Biedl Syndrome (Deveault_2011, Karmous-Benailly_2005, Patel_2016, Shaheen_2016). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
GeneDx RCV001597198 SCV001830546 pathogenic not provided 2020-05-12 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31054281, 15666242, 25525159)
Fulgent Genetics, Fulgent Genetics RCV002507167 SCV002815231 pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-05-31 criteria provided, single submitter clinical testing
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province RCV000669549 SCV003915624 pathogenic Bardet-Biedl syndrome 2 2022-07-03 criteria provided, single submitter clinical testing
Baylor Genetics RCV000669549 SCV004213979 pathogenic Bardet-Biedl syndrome 2 2024-02-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV000669549 SCV002089295 pathogenic Bardet-Biedl syndrome 2 2020-07-23 no assertion criteria provided clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889955 SCV004705075 uncertain significance Retinal dystrophy 2023-10-01 flagged submission research
PreventionGenetics, part of Exact Sciences RCV004544929 SCV004759506 pathogenic BBS2-related disorder 2024-03-01 no assertion criteria provided clinical testing The BBS2 c.700C>T variant is predicted to result in premature protein termination (p.Arg234*). This variant has been reported in individuals with Bardet-Biedl syndrome (Karmous-Benailly et al 2005. PubMed ID: 15666242; Shaheen et al 2016. PubMed ID: 27894351; Gao et al 2019. PubMed ID: 31054281). This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD. Nonsense variants in BBS2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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