ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5102_5104del (p.Gln1701_Gly1702delinsArg)

gnomAD frequency: 0.00001  dbSNP: rs1554086446
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000579858 SCV000681707 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-27 criteria provided, single submitter clinical testing This variant causes a deletion of three nucleotides located in exon 16 of the APC gene, replacing two amino acids Glutamine and Glycine with an Arginine. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders 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.
Invitae RCV003537229 SCV002196440 uncertain significance Familial adenomatous polyposis 1 2022-08-31 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 489464). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.5102_5104del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the APC protein (p.Gln1701_Gly1702delinsArg).
Ambry Genetics RCV000579858 SCV002645813 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-03 criteria provided, single submitter clinical testing The c.5102_5104delAAG variant (also known as p.Q1701_G1702delinsR) is located in coding exon 15 of the APC gene. This variant results from an in-frame AAG deletion at nucleotide positions 5102 to 5104. The amino acids at codons 1701 and 1702 are deleted and replaced by an arginine. These amino acid positions are not 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.

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