ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.661del (p.Leu221fs) (rs770258677)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000190568 SCV000245581 pathogenic Bardet-Biedl syndrome 2 2015-01-20 criteria provided, single submitter clinical testing The p.Leu221PhefsX25 variant in BBS2 has been reported in 1 homozygous and 2 compound heterozygous individuals with Bardet-Biedl syndrome (BBS; Hjortshøj 2010). This variant has been identified in 0.03% (2/6592) of European (Finnish) chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.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. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 221 and leads to a premature termination codon 25 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Complete loss of BBS2 function is an established disease mechanism in BBS. In summary, this variant meets our criteria to be classified as pathogenic for BBS in an autosomal recessive manner.
Counsyl RCV000190568 SCV000790211 likely pathogenic Bardet-Biedl syndrome 2 2017-03-15 criteria provided, single submitter clinical testing
Invitae RCV001248493 SCV001421982 pathogenic Bardet-Biedl syndrome 2019-10-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu221Phefs*25) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770258677, ExAC 0.03%). This variant has been observed in several individuals affected with Bardet-Biedl syndrome (PMID: 20120035). ClinVar contains an entry for this variant (Variation ID: 208564). Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). For these reasons, this variant has been classified as Pathogenic.
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787790 SCV000926800 pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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