Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159894 | SCV000209996 | benign | not specified | 2014-10-07 | 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, |
RCV000776458 | SCV000912003 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000159894 | SCV001448604 | uncertain significance | not specified | 2022-11-25 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.*20C>T is located in the untranslated mRNA region downstream of the termination codon. 4/4 computational tools predict no significant impact on normal splicing. However, microRNA.org predicts *20C can potentially affect several miRNA target sites that may influence expression levels of BRCA1. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2e-05 in 251002 control chromosomes (i.e. 5/251002 alleles) in the gnomAD database. In addition, the variant was reported in 2/ 7325 European American women, who were older than age 70, and have never had cancer (in the FLOSSIES database). To our knowledge, no occurrence of c.*20C>T in individuals affected with Hereditary Breast and Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign. |