ClinVar Miner

Submissions for variant NM_000038.6(APC):c.492_495del (p.Asn164fs)

dbSNP: rs1554071590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000502717 SCV000591035 pathogenic Carcinoma of colon no assertion criteria provided clinical testing The APC p.Asn164LysfsX5 variant was not identified in the literature nor was it identified in the dbSNP, NHLBI Exome Sequencing Project (Exome Variant Server), Exome Aggregation Consortium (ExAC) database, Clinvitae, COSMIC, “Mismatch Repair Genes Variant Database”, “MMR Gene Unclassified Variants Database”, InSiGHT Colon Cancer Gene Variant Database, “Zhejiang Colon Cancer Database”, ClinVar and UMD databases. The c.492_495delTCTC deletion variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 164 and leads to a premature stop codon 5 codons downstream. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the APC gene are an established mechanism of disease in familial adenomatous polyposis and is the type of variant expected to cause the disorder. In summary, based on the above information, this variant meets our laboratory’s criteria to be classified as pathogenic.

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