ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2299C>T (p.Gln767Ter)

dbSNP: rs1561575998
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003337334 SCV000814946 pathogenic Familial adenomatous polyposis 1 2020-02-11 criteria provided, single submitter clinical testing This variant has been reported in individuals affected with familial adenomatous polyposis (PMID: 9476377, 16134147, 20685668). For these reasons, this variant has been classified as Pathogenic. Several different truncations downstream of this variant (p.Ser932*, p.Ala1050Glufs*6, p.Gln1062*) that lie downstream of this variant have been determined to be pathogenic (PMID: 20685668, 23460355, 15771908, 20649969, 8730280, 19531215). This suggests that deletion of this region of the APC protein is causative of disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the APC gene (p.Gln767*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 2077 amino acids of the APC protein.
Institute of Human Genetics, University of Leipzig Medical Center RCV002294368 SCV002587107 pathogenic Familial adenomatous polyposis 1 2022-10-24 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP
Ambry Genetics RCV002424593 SCV002731714 pathogenic Hereditary cancer-predisposing syndrome 2022-09-08 criteria provided, single submitter clinical testing The p.Q767* pathogenic mutation (also known as c.2299C>T), located in coding exon 15 of the APC gene, results from a C to T substitution at nucleotide position 2299. This changes the amino acid from a glutamine to a stop codon within coding exon 15. This mutation has been identified in multiple individuals with a clinical diagnosis of Familial Adenomatous Polyposis (FAP) (Aceto G et al. Hum. Mutat. 2005 Oct;26:394; Friedl W et al. Hered Cancer Clin Pract. 2005 Sep;3:95-114; Lagarde A et al. J. Med. Genet. 2010 Oct;47:721-2). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003337334 SCV004045555 pathogenic Familial adenomatous polyposis 1 2023-05-04 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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