Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000122761 | SCV000166018 | benign | Familial adenomatous polyposis 1 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000152789 | SCV000202177 | likely benign | not specified | 2014-04-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000163307 | SCV000213835 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000122761 | SCV000487788 | likely benign | Familial adenomatous polyposis 1 | 2015-11-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000152789 | SCV000512069 | benign | not specified | 2015-03-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color | RCV000163307 | SCV000681512 | benign | Hereditary cancer-predisposing syndrome | 2016-03-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000152789 | SCV000805378 | benign | not specified | 2017-01-10 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758722 | SCV000887509 | benign | not provided | 2017-08-02 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000152789 | SCV000918464 | benign | not specified | 2017-12-04 | criteria provided, single submitter | clinical testing | Variant summary: The APC c.2262T>G (p.Val754Val) variant involves the alteration of a non-conserved nucleotide causing a synonymous change and 4/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may create ESE binding sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in 102/276142 control chromosomes (gnomAD), predominantly observed in the African subpopulation at a frequency of 0.003833 (92/24002). This frequency is about 54 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714), strongly suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign or benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. Taken together, this variant is classified as benign. |