ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.327G>A (p.Ser109=)

gnomAD frequency: 0.00001  dbSNP: rs770497817
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000667692 SCV000398072 uncertain significance 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, 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.
Counsyl RCV000667692 SCV000792182 likely benign Bardet-Biedl syndrome 2 2017-06-09 criteria provided, single submitter clinical testing
Invitae RCV001239194 SCV001412046 likely benign Bardet-Biedl syndrome 2024-01-20 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000667692 SCV005044793 uncertain significance Bardet-Biedl syndrome 2 criteria provided, single submitter clinical testing The synonymous c.327G>A p.Ser109 variant in BBS2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ser109 variant has allele frequency 0.002% in gnomAD Exomes and is novel not in any individuals in 1000 Genomes. This variant has been reported to the ClinVar database as Likely benign / Uncertain Significance. This p.Ser109 type of mutation causes no change in the protein that is produced, which is why it's considered as synonymous mutation. For these reasons, this variant has been classified as Variant of Uncertain Significance VUS.
Natera, Inc. RCV000667692 SCV001464857 uncertain significance Bardet-Biedl syndrome 2 2020-05-28 no assertion criteria provided clinical testing

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