ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1527+5G>C

gnomAD frequency: 0.00006  dbSNP: rs769041685
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248479 SCV001421967 uncertain significance Bardet-Biedl syndrome 2022-06-04 criteria provided, single submitter clinical testing This sequence change falls in intron 12 of the BBS2 gene. It does not directly change the encoded amino acid sequence of the BBS2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs769041685, gnomAD 0.01%). 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: 972444). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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 RCV002484398 SCV002786149 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-04-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002570381 SCV003551333 uncertain significance Inborn genetic diseases 2021-08-18 criteria provided, single submitter clinical testing The c.1527+5G>C intronic alteration consists of a G to C substitution 5 nucleotides after exon 12 of the BBS2 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Preventiongenetics, part of Exact Sciences RCV003426016 SCV004116696 uncertain significance BBS2-related condition 2023-06-27 criteria provided, single submitter clinical testing The BBS2 c.1527+5G>C variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/16-56533685-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001830039 SCV002089269 uncertain significance Bardet-Biedl syndrome 2 2020-07-14 no assertion criteria provided clinical testing

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