Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000223526 | SCV000276025 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-05-24 | criteria provided, single submitter | clinical testing | The c.903delG pathogenic mutation, located in coding exon 6 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 903, causing a translational frameshift with a predicted alternate stop codon (p.L301Ffs*2). 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. |
Invitae | RCV001201525 | SCV001372599 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu301Phefs*2) 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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with colorectal cancer (PMID: 30256826). ClinVar contains an entry for this variant (Variation ID: 232007). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV001201525 | SCV002804501 | likely pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2021-07-13 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003335257 | SCV004045159 | pathogenic | Familial cancer of breast | 2023-06-01 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |