ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.345+5G>A (rs1430976492)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group,Broad Institute RCV000785922 SCV000924500 uncertain significance Bardet-Biedl syndrome 2 2018-06-15 criteria provided, single submitter research The heterozygous c.345+5G>A variant was identified by our study in the compound heterozygous state, with a likely pathogenic variant, in one individual with Bardet-Biedl syndrome. This variant is located in the extended 5' splice region. This variant has been identified in <0.01% (1/15002) of European (Non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational prediction tools do not provide strong support for or against an impact to the protein. In summary, the clinical significance of this variant is uncertain.

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