Description
The APC p.Thr1292= variant was not identified in the literature nor was it identified in the LOVD 3.0 and UMD-LSDB databases. The variant was identified in dbSNP (rs377494451) as “with likely benign allele and ClinVar (classified as likely benign by Invitae, GeneDx, Ambry Genetics, Color and Mayo Clinic). The variant was identified in control databases in 4 of 276,740 chromosomes at a frequency of 0.00001 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: African in 1 of 24,028 chromosomes (freq: 0.00004), Other in 1 of 6456 chromosomes (freq: 0.0002), Latino in 1 of 34,390 chromosomes (freq: 0.00003), European in 1 of 126,310 chromosomes (freq: 0.000008); it was not observed in the Ashkenazi Jewish, East Asian, Finnish and South Asian populations. The p.Thr1292= 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. The variant occurs at a non-highly conserved nucleotide outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) 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.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | unknown | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
