ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3306C>A (p.Tyr1102Ter)

dbSNP: rs879254092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235911 SCV000293422 pathogenic not provided 2016-01-13 criteria provided, single submitter clinical testing This variant is denoted APC c.3306C>A at the cDNA level and p.Tyr1102Ter (Y1102X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAC>TAA), and is predicted to cause loss of normal protein function through protein truncation. Even though this frameshift occurs near the end of the gene in the last exon, and nonsense-mediated decay is not expected to occur, it is significant since the last 1741 amino acids are no longer translated. This variant has been reported in several individuals and families with Familial Adenomatous Polyposis (Miyaki 2008, Filipe 2009, Lagarde 2010) and is considered pathogenic.
Myriad Genetics, Inc. RCV003337266 SCV004044757 pathogenic Familial adenomatous polyposis 1 2023-05-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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