ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6055_6058GTTT[1] (p.Cys2020fs) (rs876660174)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216176 SCV000277380 pathogenic Hereditary cancer-predisposing syndrome 2015-07-23 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000255597 SCV000322559 likely pathogenic not provided 2017-04-25 criteria provided, single submitter clinical testing This deletion of 4 nucleotides in APC is denoted c.6059_6062delGTTT at the cDNA level and p.Cys2020SerfsX23 (C2020SfsX23) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GTTT[delGTTT]CTCA. The deletion causes a frameshift which changes a Cysteine to a Serine at codon 2020, and creates a premature stop codon at position 23 of the new reading frame. Even though nonsense-mediated decay is not expected to occur due to the position of the variant, it is significant since the last 824 amino acids are replaced by 22 incorrect amino acids and is predicted to cause loss of normal protein function through protein truncation, resulting in the loss of several functional domains (Azzopardi 2008). This variant has not, to our knowledge, been reported in the literature. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000255597 SCV000888753 likely pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing

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