ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3956del (p.Pro1319fs) (rs1057517558)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411669 SCV000488383 pathogenic Familial adenomatous polyposis 1 2016-03-17 criteria provided, single submitter clinical testing
GeneDx RCV000657193 SCV000778916 pathogenic not provided 2017-03-14 criteria provided, single submitter clinical testing This deletion of one nucleotide in APC is denoted c.3956delC at the cDNA level and p.Pro1319LeufsX2 (P1319LfsX2) at the protein level. The normal sequence, with the base that is deleted in brackets, is GATC[delC]TGTG. The deletion causes a frameshift, which changes a Proline to a Leucine at codon 1319 and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through protein truncation. APC Pro1319LeufsX2 has been observed in at least one individual with Familial Adenomatous Polyposis (Lagarde 2010). We consider this variant to be pathogenic.
Genome Sciences Centre,British Columbia Cancer Agency RCV000587690 SCV000693733 pathogenic Malignant Colorectal Neoplasm 2016-04-12 no assertion criteria provided research

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