ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)

gnomAD frequency: 0.00002  dbSNP: rs764164384
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667444 SCV000791889 pathogenic Bardet-Biedl syndrome 2 2017-05-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000667444 SCV000918640 pathogenic Bardet-Biedl syndrome 2 2017-09-08 criteria provided, single submitter clinical testing Variant summary: The BBS2 c.814C>T (p.Arg272X) variant results in a premature termination codon, predicted to cause a truncated or absent BBS2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. A truncation downstream of this position, c.823C>T (p.Arg275X) has been classified as pathogenic by our laboratory. This variant was found in 3/246118 control chromosomes at a frequency of 0.0000122, which does not exceed the estimated maximal expected allele frequency of a pathogenic BBS2 variant (0.0008452). Multiple publications have cited the variant in homozygous affected individuals. The variant of interest has not, to our knowledge, been cited and classified by clinical diagnostic laboratories. Taken together, this variant is classified as pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV000808886 SCV000949015 pathogenic Bardet-Biedl syndrome 2023-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg272*) 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 (rs764164384, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 11285252, 28559085). ClinVar contains an entry for this variant (Variation ID: 552219). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001528280 SCV002558151 pathogenic not provided 2022-02-03 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: 25525159, 28559085, 25780760, 31196119, 11285252)
Fulgent Genetics, Fulgent Genetics RCV002499159 SCV002810320 pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-06-15 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000808886 SCV003915882 pathogenic Bardet-Biedl syndrome criteria provided, single submitter research
Baylor Genetics RCV000667444 SCV004214012 pathogenic Bardet-Biedl syndrome 2 2023-09-07 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889949 SCV004705070 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV000667444 SCV001457441 pathogenic Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528280 SCV001739755 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528280 SCV001958376 pathogenic not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004732990 SCV005356812 pathogenic BBS2-related disorder 2024-09-20 no assertion criteria provided clinical testing The BBS2 c.814C>T variant is predicted to result in premature protein termination (p.Arg272*). This variant was found in the homozygous state in multiple individuals with Bardet-Biedl syndrome (see family 4 from Nishimura et al. 2001. PubMed ID: 11285252; Hjortshøj et al. 2010. PubMed ID: 20120035; Redin et al. 2012. PubMed ID: 22773737). This variant is reported in 0.0099% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Nonsense variants in BBS2 are expected to be pathogenic. This variant is interpreted as pathogenic.

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