ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3163del (p.His1054_Ile1055insTer)

dbSNP: rs2533475937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002322539 SCV002608468 pathogenic Hereditary cancer-predisposing syndrome 2021-03-03 criteria provided, single submitter clinical testing The c.3163delA pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 3163, causing a translational frameshift with a predicted alternate stop codon (p.I1055*). This alteration occurs at the 3' terminus of the APC gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 1788 amino acids of the protein. However, premature stop codons are typically deleterious in nature and a significant portion of the protein is affected (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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