ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6717CTC[1] (p.Ser2242del)

dbSNP: rs1766283239
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004562050 SCV001405716 uncertain significance Familial adenomatous polyposis 1 2024-09-17 criteria provided, single submitter clinical testing This variant, c.6720_6722del, results in the deletion of 1 amino acid(s) of the APC protein (p.Ser2242del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 959732). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV001524712 SCV001734654 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-28 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of one amino acid at exon 16 of the APC protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320813 SCV004025082 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001524712 SCV004069478 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-07 criteria provided, single submitter clinical testing The c.6720_6722delCTC variant (also known as p.S2242del) is located in coding exon 15 of the APC gene. This variant results from an in-frame CTC deletion at nucleotide positions 6720 to 6722. This results in the in-frame deletion of a serine at codon 2242. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
All of Us Research Program, National Institutes of Health RCV004004847 SCV004843447 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-10-23 criteria provided, single submitter clinical testing This variant causes an in-frame deletion of one amino acid at exon 16 of the APC protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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