Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000045904 | SCV000073917 | likely benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000130774 | SCV000185667 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-30 | criteria provided, single submitter | clinical testing | Insufficient evidence |
| Counsyl | RCV000077477 | SCV000488003 | uncertain significance | Breast-ovarian cancer, familial 2 | 2015-12-16 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000430520 | SCV000517197 | likely benign | not specified | 2018-01-11 | 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 | RCV000130774 | SCV000911112 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-11 | criteria provided, single submitter | clinical testing | |
| Integrated Genetics/Laboratory Corporation of America | RCV000430520 | SCV000917028 | uncertain significance | not specified | 2018-09-28 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.9839C>A (p.Pro3280His) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.2e-05 in 246074 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.9839C>A has been reported in the literature in an individual affected with Hereditary Breast and Ovarian Cancer (Azzollini_2016), who was also indicated to carry another pathogenic variant, although the variant was not indicated. These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. An in vitro study demonstrated the variant to behave similar to wild type BRCA2 in DNA damaging agent sensitivity and Rad51 foci formation assays indicating a possible neutral impact (Hucl_2008). Four ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant twice as likely benign and twice as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
| Sharing Clinical Reports Project |
RCV000077477 | SCV000109275 | benign | Breast-ovarian cancer, familial 2 | 2012-05-01 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000077477 | SCV000145719 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing |