ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.242A>G (p.Tyr81Cys)

gnomAD frequency: 0.00001  dbSNP: rs1212671249
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002231798 SCV000640404 uncertain significance Mosaic variegated aneuploidy syndrome 1 2024-04-22 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 81 of the BUB1B protein (p.Tyr81Cys). This variant is present in population databases (no rsID available, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 465370). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000540478 SCV002012402 uncertain significance Mosaic variegated aneuploidy syndrome 2021-09-22 criteria provided, single submitter clinical testing The BUB1B c.242A>G (p.Tyr81Cys) missense change has a maximum subpopulation frequency of 0.019% in gnomAD v3.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/variant/15-40170539-A-G?dataset=gnomad_r3). Six of seven in silico tools predict a deleterious effect of this variant on protein function (PP3), but to our knowledge these predictions have not been confirmed by functional assays. This variant was reported in a hepatocellular carcinoma but was not present in the patient's germline (PMID: 22561517). To our knowledge, this variant has not been reported in individuals with mosaic variegated aneuploidy syndrome. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_supporting, PP3.
Fulgent Genetics, Fulgent Genetics RCV002476149 SCV002791252 uncertain significance Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 2021-09-01 criteria provided, single submitter clinical testing

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