Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031103 | SCV000244339 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-08-10 | reviewed by expert panel | curation | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000307 |
Ambry Genetics | RCV000162723 | SCV000213185 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000205796 | SCV000261249 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000031103 | SCV000488284 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-02-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000586144 | SCV000512300 | likely benign | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25589003, 15385441, 17924331, 21990134, 16518693, 19996028, 18375895, 12531920, 21203900, 22753008) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586144 | SCV000699012 | likely benign | not provided | 2016-02-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000162723 | SCV000903026 | benign | Hereditary cancer-predisposing syndrome | 2016-04-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000586144 | SCV002048619 | likely benign | not provided | 2020-12-14 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162723 | SCV002538199 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-26 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV003493418 | SCV004242825 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000586144 | SCV004704196 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | BRCA1: BP1 |
Sharing Clinical Reports Project |
RCV000031103 | SCV000053699 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-11-30 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000586144 | SCV000591436 | uncertain significance | not provided | no assertion criteria provided | clinical testing | The c.3327A>C / p.Lys1109Asn is a missense variant, located in exon 11 of BRCA1. It is listed in dbSNP database (rs-id=rs41293449) from a clinical source where no frequency information was provided; therefore no conclusions can be drawn for its population occurrence. The c.3327A_C variant is classified as “not pathogenic or of no clinical significance” by two studies (Easton_2007_17924331, Tavtigian_2008_18951461. Another variant in the same position and resulting in the same amino acid alteration (c.3327A>G, p.lys1109Asn) is also reported in LOVD and BIC databases with unknown pathogenicity. A variant classification study using in silico and probability based likelyhood pathogenicity assays also presents this variant to have an unclassified pathogenicity (Spurdle_2008_18375895, Lindor_2011_21990134). The Lys1109 residue is conserved across mammals and species and computational analyses, SIFT, suggest that this variant may impact the protein; however, this information is not predictive enough to assume pathogenicity. Based on the above information, the pathogenicity of this variants cannot be determined, thus we tend to classify it as a variant of uncertain clinical significance (VUS). | |
BRCAlab, |
RCV000031103 | SCV004244053 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-03-02 | no assertion criteria provided | clinical testing |