ClinVar

Description

The CDH1 p.Asn863= variant was not identified in the literature nor was it identified in the Cosmic, MutDB, Zhejiang Colon Cancer Database. The variant was identified in dbSNP (ID: rs115817750) as With Likely benign, Uncertain significance allele, ClinVar (classified as likely benign by Invitae, Ambry Genetics, Counsyl, Color Genomics; classified as benign by GeneDx, IGLCA). The variant was identified in control databases in 49 of 277226 chromosomes at a frequency of 0.0002 (Genome Aggregation Database Feb 27, 2017). It was observed in the following populations: African in 8 of 24032 chromosomes (freq: 0.0003), European in 37 of 126712 chromosomes (freq: 0.0003), East Asian in 4 of 18870 chromosomes (freq: 0.0002); it was not observed in the Other, Latino, Ashkenazi Jewish, Finnish, and South Asian populations. The p.Asn863= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.