ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4741del (p.Ser1581fs) (rs886039682)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255014 SCV000322624 likely pathogenic not provided 2017-03-06 criteria provided, single submitter clinical testing This deletion of one nucleotide in APC is denoted c.4741delT at the cDNA level and p.Ser1581LeufsX69 (S1581LfsX69) at the protein level. The normal sequence, with the base that is deleted in braces, is TATT[T]CTGC. The deletion causes a frameshift which changes a Serine to a Leucine at codon 1581, and creates a premature stop codon at position 69 of the new reading frame. Even though this frameshift occurs in the last exon of the gene, and nonsense-mediated decay is not expected to occur, it is significant since the last 1263 amino acids are no longer translated. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.

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