ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8268_8270del (p.Ile2756_Val2757delinsMet)

dbSNP: rs2150002222
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003773410 SCV002301461 uncertain significance Familial adenomatous polyposis 1 2024-01-11 criteria provided, single submitter clinical testing This variant, c.8268_8270del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the APC protein (p.Ile2756_Val2757delinsMet). 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: 1510383). 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.
Ambry Genetics RCV002425414 SCV002681441 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing The c.8268_8270delAGT variant (also known as p.I2756_V2757delinsM), located in coding exon 15 of the APC gene, results from an in-frame deletion of AGT at nucleotide positions 8268 to 8270. This results in the substitution of isoleucine and valine residues for a methionine residue at codon 2756 and 2757. These amino acid positions are poorly 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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