ClinVar Miner

Submissions for variant NM_001211.6(BUB1B):c.1464A>T (p.Lys488Asn)

gnomAD frequency: 0.00001  dbSNP: rs368023159
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002228397 SCV001496085 uncertain significance Mosaic variegated aneuploidy syndrome 1 2024-02-17 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 488 of the BUB1B protein (p.Lys488Asn). This variant is present in population databases (rs368023159, gnomAD 0.0009%). 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: 133766). 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 tolerated. 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.
Ambry Genetics RCV004019672 SCV004916998 uncertain significance Inborn genetic diseases 2024-02-27 criteria provided, single submitter clinical testing The c.1464A>T (p.K488N) alteration is located in exon 11 (coding exon 11) of the BUB1B gene. This alteration results from a A to T substitution at nucleotide position 1464, causing the lysine (K) at amino acid position 488 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008019 SCV005638071 uncertain significance Mosaic variegated aneuploidy syndrome 1; Premature chromatid separation trait; Colorectal cancer 2024-04-25 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002228397 SCV005689383 uncertain significance Mosaic variegated aneuploidy syndrome 1 2024-07-09 criteria provided, single submitter clinical testing The BUB1B c.1464A>T (p.Lys488Asn) missense change has a maximum subpopulation frequency of 0.0009% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with mosaic variegated aneuploidy syndrome. In summary, the evidence currently available is insufficient to determine the role of this variant in mosaic variegated aneuploidy syndrome. It has therefore been classified as of uncertain significance.
ITMI RCV000120416 SCV000084568 not provided not specified 2013-09-19 no assertion provided reference population

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