ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2944del (p.Ser982fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003334994 SCV004045752 pathogenic Familial adenomatous polyposis 1 2023-05-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004334144 SCV005027418 pathogenic Hereditary cancer-predisposing syndrome 2024-03-05 criteria provided, single submitter clinical testing The c.2944delT pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 2944, causing a translational frameshift with a predicted alternate stop codon (p.S982Rfs*23). This alteration occurs at the 3' terminus of theAPC gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 65.5% of the protein. However, premature stop codons are typically deleterious in nature and the impacted region is critical for protein function (Ambry internal data). This variant has been observed in at least one individual with a personal and/or family history that is consistent with APC-associated polyposis conditions (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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