ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4901del (p.Pro1634fs)

dbSNP: rs1057518901
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415316 SCV000492866 pathogenic Adenomatous colonic polyposis 2014-06-17 criteria provided, single submitter clinical testing
Department of Molecular Diagnostics, Institute of Oncology Ljubljana RCV000755040 SCV000882860 pathogenic Familial adenomatous polyposis 1 2018-10-24 criteria provided, single submitter clinical testing
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269921 SCV001450282 pathogenic not provided 2015-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004943831 SCV005467190 pathogenic Hereditary cancer-predisposing syndrome 2024-09-25 criteria provided, single submitter clinical testing The c.4901delC pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 4901, causing a translational frameshift with a predicted alternate stop codon (p.P1634Rfs*16). This alteration occurs at the 3' terminus of theAPC gene, is not expected to trigger nonsense-mediated mRNA decay, and impacts the last 43% of the protein. However, premature stop codons are typically deleterious in nature and a significant portion of the protein is affected (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 disease (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 variant is interpreted as a disease-causing mutation.

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