ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4251dup (p.Ile1418fs)

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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. RCV004566238 SCV004044827 pathogenic Familial adenomatous polyposis 1 2023-05-10 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 RCV004334138 SCV005032663 likely pathogenic Hereditary cancer-predisposing syndrome 2024-02-12 criteria provided, single submitter clinical testing The c.4251dupT variant, located in coding exon 15 of the APC gene, results from a duplication of T at nucleotide position 4251, causing a translational frameshift with a predicted alternate stop codon (p.I1418Yfs*5). This alteration occurs at the 3' terminus of theAPC gene, is not expected to trigger nonsense-mediated mRNA decay, and only impacts the last 50.2% 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 is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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