Total submissions: 9
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000166323 | SCV000217109 | likely benign | Hereditary cancer-predisposing syndrome | 2019-02-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
| Gene |
RCV000586073 | SCV000533862 | likely benign | not provided | 2019-04-04 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15235020, 24845084, 15385441) |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000586073 | SCV000605886 | uncertain significance | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004586524 | SCV000699158 | likely benign | not specified | 2024-04-29 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.4585A>G (p.Ile1529Val) results in a conservative amino acid change in 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 8e-06 in 251384 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4585A>G has been reported in the literature as a VUS in individuals undergoing testing for Hereditary Breast And Ovarian Cancer Syndrome (example, Judkins_2005). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Multiple publications report experimental evidence evaluating an impact on protein function (example, Carvalho_2014, Woods_2016, Nepomuceno_2022). These results showed no damaging effect of this variant in transcriptional assays. The following publications have been ascertained in the context of this evaluation (PMID: 15235020, 24845084, 16267036, 36171434, 15385441, 23704879, 28781887).ClinVar contains an entry for this variant (Variation ID: 55233). Based on the evidence outlined above, the variant was classified as likely benign. |
| Color Diagnostics, |
RCV000166323 | SCV001342847 | benign | Hereditary cancer-predisposing syndrome | 2015-10-15 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001432824 | SCV001635603 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV000077577 | SCV004817654 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-11-30 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000077577 | SCV000109380 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-08-03 | no assertion criteria provided | clinical testing | |
| Breast Cancer Information Core |
RCV000077577 | SCV000145122 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |