Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203673 | SCV000072284 | likely benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000130732 | SCV000185623 | likely benign | Hereditary cancer-predisposing syndrome | 2018-03-20 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other strong data supporting benign classification |
Gene |
RCV000044271 | SCV000210596 | likely benign | not specified | 2017-11-06 | 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. |
Counsyl | RCV000083100 | SCV000489068 | uncertain significance | Breast-ovarian cancer, familial 2 | 2016-08-12 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000044271 | SCV000591876 | uncertain significance | not specified | 2015-03-10 | criteria provided, single submitter | clinical testing | |
Integrated Genetics/Laboratory Corporation of America | RCV000044271 | SCV000694720 | uncertain significance | not specified | 2019-06-25 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.3814A>G (p.Met1272Val) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8.8e-06 in 226788 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.3814A>G has been reported in the literature in individuals affected with Breast Cancer (Suter_2004, Kim_2006, Han_2006, Borg_2010, Zanella_2017). These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Six ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cites the variant as uncertain significance twice, likely benign three times and once as benign. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Color | RCV000130732 | SCV000910980 | benign | Hereditary cancer-predisposing syndrome | 2017-05-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000083100 | SCV001139073 | likely benign | Breast-ovarian cancer, familial 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000083100 | SCV000115174 | benign | Breast-ovarian cancer, familial 2 | 2012-05-01 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000083100 | SCV000146302 | uncertain significance | Breast-ovarian cancer, familial 2 | 2004-02-20 | no assertion criteria provided | clinical testing |