Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002382536 | SCV002671485 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-04-21 | criteria provided, single submitter | clinical testing | The p.F242S variant (also known as c.725T>C), located in coding exon 4 of the BARD1 gene, results from a T to C substitution at nucleotide position 725. The phenylalanine at codon 242 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003607483 | SCV004488546 | uncertain significance | Familial cancer of breast | 2023-01-16 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1757961). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 242 of the BARD1 protein (p.Phe242Ser). |