Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467954 | SCV000547230 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2023-03-29 | 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: 407789). This premature translational stop signal has been observed in individual(s) with prostate cancer (PMID: 29356034). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Ser24Valfs*45) 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). |
Ambry Genetics | RCV000571820 | SCV000661525 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-02-07 | criteria provided, single submitter | clinical testing | The c.68dupC pathogenic mutation, located in coding exon 1 of the BRIP1 gene, results from a duplication of C at nucleotide position 68, causing a translational frameshift with a predicted alternate stop codon (p.S24Vfs*45). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation. |
Color Diagnostics, |
RCV000571820 | SCV000910180 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-10-30 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003335327 | SCV004044262 | pathogenic | Familial cancer of breast | 2023-05-30 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Baylor Genetics | RCV003335327 | SCV004211318 | likely pathogenic | Familial cancer of breast | 2022-12-05 | criteria provided, single submitter | clinical testing |