ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7139_7142AACA[1] (p.Thr2382fs) (rs886039687)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255086 SCV000322630 likely pathogenic not provided 2016-07-19 criteria provided, single submitter clinical testing This deletion of four nucleotides in APC is denoted c.7143_7146delAACA at the cDNA level and p.Thr2382ValfsX19 (T2382VfsX19) at the protein level. The normal sequence, with the bases that are deleted in braces, is AACA[AACA]GGTT. The deletion causes a frameshift which changes a Threonine to a Valine at codon 2382, and creates a premature stop codon at position 19 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 462 amino acids are replaced by 18 incorrect amino acids. 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.
Ambry Genetics RCV001026088 SCV001188399 pathogenic Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Rarity in general population databases (dbsnp, esp, 1000 genomes)

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