Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000229009 | SCV000291015 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2023-05-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 241641). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln827*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). |
| Color Diagnostics, |
RCV000580273 | SCV000684215 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-02-24 | 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. 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 | RCV000580273 | SCV001176490 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-02-02 | criteria provided, single submitter | clinical testing | The p.Q827* pathogenic mutation (also known as c.2479C>T), located in coding exon 16 of the BRIP1 gene, results from a C to T substitution at nucleotide position 2479. This changes the amino acid from a glutamine to a stop codon within coding exon 16. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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, |
RCV003335280 | SCV004044287 | 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 | RCV003335280 | SCV004214796 | likely pathogenic | Familial cancer of breast | 2023-08-11 | criteria provided, single submitter | clinical testing |