ClinVar Miner

Submissions for variant NM_000038.6(APC):c.294_296del (p.Ser98del)

dbSNP: rs2532294333
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004007975 SCV004814544 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-02-15 criteria provided, single submitter clinical testing This variant is an in-frame deletion of serine at amino acid residue 89 in exon 4 of the APC protein. Splice site prediction tools suggest that this variant may impact RNA splicing. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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