Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000144183 | SCV000578876 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Invitae | RCV001079209 | SCV000560415 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000562321 | SCV000661194 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Color Diagnostics, |
RCV000562321 | SCV000906039 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-27 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000257969 | SCV001133712 | likely benign | not provided | 2019-06-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194440 | SCV001364002 | likely benign | not specified | 2019-06-14 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.2391G>A alters a non-conserved nucleotide resulting in a synonymous change. 5/5 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 1.6e-05 in 250296 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.2391G>A has been reported in the literature in a validation study with limited available information (Hondow_2011). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four ClinVar submissions from clinical diagnostic laboratories and an expert panel (ENIGMA)(evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as likely benign. |
Gene |
RCV000257969 | SCV001899331 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895014 | SCV004710968 | likely benign | BRCA2-related condition | 2022-03-18 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Sharing Clinical Reports Project |
RCV000144183 | SCV000189256 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2011-03-17 | no assertion criteria provided | clinical testing |