ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.367A>G (p.Ile123Val)

gnomAD frequency: 0.20545  dbSNP: rs11373
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service RCV006629118 SCV007517064 benign Early onset severe obesity 2023-08-03 criteria provided, single submitter clinical testing The variant is observed in one or more well-documented healthy adults. (BS2 - Strong) | The p.(Ile123Val) variant is observed in 7.449/18.390 (40.5057%) alleles from individuals of gnomAD East Asian background in gnomAD All. The p.(Ile123Val) variant is observed in 1.320/5.008 (26.3578%) alleles from individuals of 1kG All background in 1kG All. The p.(Ile123Val) variant is observed in 2.076/5.174 (40.1237%) alleles from individuals of gnomAD Genomes v3 East Asian background in gnomAD Genomes v3, indicating it is a common benign variant. (BA1 - Standalone) | The p.(Ile123Val) variant is not predicted to introduce a novel splice site by any splice site algorithm. The p.(Ile123Val) missense variant is predicted to be tolerated by both SIFT or PolyPhen2. The valine residue at codon 123 of BBS2 is present in Tibetan antelope and 5 other mammalian species. The nucleotide c.367 in BBS2 is not conserved according to a GERP++ and PhyloP analysis of 100 vertebrates. (BP4 - Supporting)
Mayo Clinic Laboratories, Mayo Clinic RCV000241605 SCV007309216 benign not specified 2022-11-15 criteria provided, single submitter clinical testing BA1, BP4
Breakthrough Genomics, Breakthrough Genomics RCV001706364 SCV005292130 benign not provided criteria provided, single submitter not provided
Dept Of Ophthalmology, Nagoya University RCV003888665 SCV004705078 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
GeneDx RCV001706364 SCV001883535 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24746959, 20498079, 24400638)
Genome-Nilou Lab RCV001526785 SCV001737392 benign Retinitis pigmentosa 74 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000576482 SCV001737391 benign Bardet-Biedl syndrome 2 2021-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000261972 SCV001000396 benign Bardet-Biedl syndrome 2026-02-04 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000709672 SCV000745157 benign Bardet-Biedl syndrome 1 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000576482 SCV000677147 benign Bardet-Biedl syndrome 2 2017-06-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000576482 SCV000398071 benign Bardet-Biedl syndrome 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
PreventionGenetics, part of Exact Sciences RCV000241605 SCV000314812 benign not specified criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000241605 SCV001953952 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000576482 SCV001458475 benign Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000709672 SCV000733506 benign Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing

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