Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159544 | SCV000209508 | likely benign | not specified | 2017-12-07 | 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. |
Invitae | RCV000168133 | SCV000218792 | benign | Familial adenomatous polyposis 1 | 2018-01-12 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000168133 | SCV000488505 | uncertain significance | Familial adenomatous polyposis 1 | 2016-04-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000567920 | SCV000667228 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-05 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification |
Mendelics | RCV000168133 | SCV000838095 | uncertain significance | Familial adenomatous polyposis 1 | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Color | RCV000567920 | SCV000902832 | likely benign | Hereditary cancer-predisposing syndrome | 2016-05-22 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000159544 | SCV000918467 | uncertain significance | not specified | 2018-01-08 | criteria provided, single submitter | clinical testing | Variant summary: The APC c.2847G>T (p.Met949Ile) variant involves the alteration of a conserved nucleotide and is predicted to be benign by 3/3 in silico tools (SNPsandGO and Mutation Taster not captured due to low reliability index). This variant was found in 11/276582 control chromosomes (gnomAD), predominantly observed in the African subpopulation at a frequency of 0.000416 (10/24026). This frequency is about 6 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714), suggesting this is possibly a benign polymorphism found primarily in the populations of African origin. This variant has been reported in one patient with colorectal adenoma without strong evidence for causality (Azzopard_2008). Multiple clinical diagnostic laboratories/reputable databases in ClinVar have classified this variant as likely benign(2), benign(1) or variant of uncertain significance(2). Taken together, this variant is classified as variant of uncertain significance-possibly benign. |
CSER_CC_NCGL; University of Washington Medical Center | RCV000148363 | SCV000190055 | uncertain significance | Colorectal adenoma | 2014-06-01 | no assertion criteria provided | research |