Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001087073 | SCV000253521 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409501 | SCV000488825 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-07-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000441560 | SCV000512275 | likely benign | not specified | 2017-05-26 | 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 Diagnostics, |
RCV000583744 | SCV000688671 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000441560 | SCV000699309 | benign | not specified | 2021-03-14 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.81-17C>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00011 in 244288 control chromosomes, predominantly at a frequency of 0.00078 within the Latino subpopulation in the gnomAD database. This frequency is not significantly higher than expected for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (0.00011 vs 0.001), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.81-17C>G in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome has been reported. At-least one co-occurrence with another pathogenic variant has been observed at our laboratory (MSH2 c.366+1G>A), providing supporting evidence for a benign role. At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant on homology directed repair activity (example, Findlay_2018). Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign, n=5; VUS, n=1). Based on the evidence outlined above, the variant was classified as benign. |
Prevention |
RCV000589921 | SCV000806986 | likely benign | not provided | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000589921 | SCV000591236 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Brotman Baty Institute, |
RCV000409501 | SCV001243711 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |