Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001012932 | SCV001173453 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-08-02 | criteria provided, single submitter | clinical testing | The p.S580* pathogenic mutation (also known as c.1739C>G), located in coding exon 11 of the BRIP1 gene, results from a C to G substitution at nucleotide position 1739. This changes the amino acid from a serine to a stop codon within coding exon 11. 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. |
| Labcorp Genetics |
RCV001873241 | SCV002131948 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2021-03-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser580*) 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). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 819959). For these reasons, this variant has been classified as Pathogenic. |
| Myriad Genetics, |
RCV003336237 | SCV004045121 | pathogenic | Familial cancer of breast | 2023-06-05 | 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. |