Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002558716 | SCV003029740 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2022-03-15 | 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: 915876). This premature translational stop signal has been observed in individual(s) with clinical features of Fanconi anemia (PMID: 33224012). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys254Argfs*19) 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). |
| Myriad Genetics, |
RCV003336309 | SCV004043083 | pathogenic | Familial cancer of breast | 2023-05-31 | 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 | RCV003336309 | SCV004214779 | pathogenic | Familial cancer of breast | 2023-08-29 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004032933 | SCV005029212 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-02-21 | criteria provided, single submitter | clinical testing | The c.761_764delAGCA pathogenic mutation, located in coding exon 6 of the BRIP1 gene, results from a deletion of 4 nucleotides at nucleotide positions 761 to 764, causing a translational frameshift with a predicted alternate stop codon (p.K254Rfs*19). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant has been identified in conjunction with another BRIP1 variant in an individual with features consistent with BRIP1-related Fanconi Anemia (FA-J) (Toksoy G et al. Mol Syndromol, 2020 Nov;11:183-196). 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. |
| Istanbul Faculty of Medicine, |
RCV001255879 | SCV001296384 | likely pathogenic | Fanconi anemia complementation group J | 2020-03-17 | no assertion criteria provided | clinical testing | Segregates in family |