Total submissions: 9
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000131488 | SCV000186476 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-11 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence,Co-occurence with mutation in same gene (phase unknown),In silico models in agreement (benign),Other data supporting benign classification |
| Breast Cancer Information Core |
RCV000113731 | SCV000147051 | uncertain significance | Breast-ovarian cancer, familial 2 | 2004-02-20 | no assertion criteria provided | clinical testing | |
| Color | RCV000131488 | SCV000903207 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-11 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000113731 | SCV000785180 | likely benign | Breast-ovarian cancer, familial 2 | 2017-05-22 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000212206 | SCV000167325 | benign | not specified | 2014-04-07 | 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. |
| Integrated Genetics/Laboratory Corporation of America | RCV000588182 | SCV000694837 | uncertain significance | not provided | 2016-07-26 | criteria provided, single submitter | clinical testing | Variant summary: The BRCA2 c.517-4C>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool (MutationTaster) predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 4/120918 control chromosomes, only observed in the African subpopulation at a frequency of 0.0002915 (3/10290). This frequency is lower than the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). However, this variant may still represent as a rare benign polymorphism found in the populations of African origin. The variant has been reported by BIC in two affected individuals, one known to be without co-occurrence with other deleterious variants in BRCA1/2. In ClinVar while two labs consider it as uncertain significance, one lab classifies it as benign. Taken together, this variant is currently classified as VUS-possibly benign. |
| Invitae | RCV000044590 | SCV000072603 | benign | Hereditary breast and ovarian cancer syndrome | 2018-01-06 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000113731 | SCV000296597 | uncertain significance | Breast-ovarian cancer, familial 2 | 2016-06-17 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000113731 | SCV000297535 | benign | Breast-ovarian cancer, familial 2 | 2012-09-11 | no assertion criteria provided | clinical testing |