ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6627_6629del (p.Ser2210del)

dbSNP: rs2149969256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV002254860 SCV002526043 uncertain significance Familial adenomatous polyposis 1 2022-05-02 criteria provided, single submitter clinical testing The APC c.6627_6629del (p.Ser2210del) change results in the deletion of a single serine residue in exon 16 of the APC gene (BP3). This variant is absent in gnomAD v2.1.1 (PM2_supporting; https://gnomad.broadinstitute.org/). In silico analysis using PROVEAN predicts a benign effect of this variant on protein function (PMID: 23056405), but to our knowledge functional studies have not been performed. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2, BP3.

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