Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000044784 | SCV000072797 | likely benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000128953 | SCV000172831 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-21 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other strong data supporting benign classification |
Gene |
RCV000439783 | SCV000512372 | likely benign | not specified | 2018-01-10 | 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 | RCV000439783 | SCV000694914 | uncertain significance | not specified | 2019-01-21 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.5882G>A (p.Ser1961Asn) results in a conservative amino acid change located in the BRCA2 repeat region, between the repeats BRC6 and BRC7 (IPR002093) of 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 8.1e-06 in 246088 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5882G>A has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Blay_2013, Infante_2006, Velasco_2005). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported (BRCA1 c.3331_3334delCAAG, p.Gln1111fsX5 in the BIC database), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four other ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant, three times as likely benign and once as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |
Counsyl | RCV000031585 | SCV000784831 | uncertain significance | Breast-ovarian cancer, familial 2 | 2017-01-04 | criteria provided, single submitter | clinical testing | |
Color | RCV000128953 | SCV000903520 | benign | Hereditary cancer-predisposing syndrome | 2016-12-21 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000031585 | SCV001139129 | likely benign | Breast-ovarian cancer, familial 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031585 | SCV000054191 | benign | Breast-ovarian cancer, familial 2 | 2012-03-12 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031585 | SCV000146722 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-06-20 | no assertion criteria provided | clinical testing |