ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1409-6A>G (rs886039508)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255289 SCV000322201 likely pathogenic not provided 2016-03-18 criteria provided, single submitter clinical testing This variant is denoted APC c.1409-6A>G or IVS11-6A>G and consists of an A>G nucleotide substitution at the -6 position of intron 11 of the APC gene. This variant is predicted to result in the gain of a new cryptic splice acceptor site five nucleotides upstream of the natural site. This variant, also reported as APC IVS10-6A>G, has been demonstrated by protein truncation testing and minigene assays to cause abnormal splicing (Cao 2000, Lagarde 2010, Grandval 2014). Cao et al. (2000) described an APC c.1409-6A>G family with 100s to 1000s of colorectal polyps, congenital hypertrophy of the retinal pigment epithelium (CHRPE) and osteoma. APC c.1409-6A>G was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. The adenine (A) nucleotide that is altered is not conserved across species. Based on currently available information, we consider APC c.1409-6A>G to be a likely pathogenic variant.

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