Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Color Diagnostics, |
RCV001180451 | SCV001345384 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-15 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 17 of the BRIP1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRIP1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
| Ambry Genetics | RCV001180451 | SCV002732568 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-05-16 | criteria provided, single submitter | clinical testing | The p.Y800* pathogenic mutation (also known as c.2400C>A), located in coding exon 16 of the BRIP1 gene, results from a C to A substitution at nucleotide position 2400. This changes the amino acid from a tyrosine to a stop codon within coding exon 16. A different alteration that results in a stop codon at the same amino acid position, c.2400C>G, was reported in conjunction with a second truncating mutation in a Fanconi anemia type J (FA-J) patient (Levran O et al. Nat. Genet. 2005 Sep;37:931-3). The c.2400C>G alteration has also been reported in a patient with ovarian cancer, who had a family history of breast and ovarian cancer, and in a patient with peritoneal cancer (Ramus SJ et al. J. Natl. Cancer Inst. 2015 Nov;107; Norquist BM et al. JAMA Oncol. 2016 Apr;2:482-90). In addition to the information presented in the literature, the c.2400C>A alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003336315 | SCV004045089 | pathogenic | Familial cancer of breast | 2023-06-06 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003336315 | SCV004211375 | likely pathogenic | Familial cancer of breast | 2021-06-15 | criteria provided, single submitter | clinical testing |