ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)

gnomAD frequency: 0.00019  dbSNP: rs199898889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001119862 SCV001278313 uncertain significance Bardet-Biedl syndrome 2 2018-03-30 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001241545 SCV001414568 uncertain significance Bardet-Biedl syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 242 of the BBS2 protein (p.Asn242Ser). This variant is present in population databases (rs199898889, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 887243). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BBS2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002491373 SCV002794292 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-03-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001119862 SCV002089293 uncertain significance Bardet-Biedl syndrome 2 2020-02-13 no assertion criteria provided clinical testing

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