ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6808_6819del (p.Ser2270_Gly2273del)

dbSNP: rs2533745259
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002369519 SCV002663591 uncertain significance Hereditary cancer-predisposing syndrome 2020-10-27 criteria provided, single submitter clinical testing The c.6808_6819del12 variant (also known as p.S2270_G2273del) is located in coding exon 15 of the APC gene. This variant results from an in-frame deletion of 12 nucleotides at nucleotide positions 6808 to 6819. This results in the in-frame deletion of 4 amino acids at codons 2270 to 2273. The amino acid positions in this region are well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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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