Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636183 | SCV000757615 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2020-03-18 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has not been reported in the literature in individuals with BRIP1-related disease. This sequence change creates a premature translational stop signal (p.Trp863*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. |
Color Diagnostics, |
RCV001525099 | SCV001735117 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-09-14 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 19 of the BRIP1 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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 | RCV001525099 | SCV002739198 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-02 | criteria provided, single submitter | clinical testing | The p.W863* pathogenic mutation (also known as c.2589G>A), located in coding exon 18 of the BRIP1 gene, results from a G to A substitution at nucleotide position 2589. This changes the amino acid from a tryptophan to a stop codon within coding exon 18. This 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, |
RCV003336108 | SCV004044928 | pathogenic | Familial cancer of breast | 2023-06-07 | 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. |