Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001058495 | SCV001223070 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-06-03 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with BRCA1-related conditions. This sequence change replaces aspartic acid with asparagine at codon 1851 of the BRCA1 protein (p.Asp1851Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. |
Brotman Baty Institute, |
RCV001076394 | SCV001242135 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |