Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082348 | SCV000073679 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000160254 | SCV000210677 | benign | not specified | 2014-09-18 | 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 | RCV000114020 | SCV000221113 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-02-03 | criteria provided, single submitter | literature only | |
Color Diagnostics, |
RCV000580470 | SCV000684009 | benign | Hereditary cancer-predisposing syndrome | 2016-08-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000160254 | SCV000695195 | likely benign | not specified | 2022-12-15 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.8953+16C>T 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 6.1e-05 in 244558 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast And Ovarian Cancer Syndrome (6.1e-05 vs 0.00075), allowing no conclusion about variant significance. c.8953+16C>T has been reported in the literature without convincing association with Hereditary Breast and Ovatian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign (n=2) and likely benign (n=2). Based on the evidence outlined above, the variant was classified as likely benign. |
Center for Genomic Medicine, |
RCV000160254 | SCV002551840 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000114020 | SCV000147496 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 1998-11-30 | no assertion criteria provided | clinical testing | |
BRCAlab, |
RCV000114020 | SCV004243845 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2020-03-02 | no assertion criteria provided | clinical testing |