Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000663215 | SCV000786401 | likely pathogenic | Fanconi anemia complementation group J; Ovarian neoplasm | 2018-04-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000772710 | SCV000905969 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-05-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000772710 | SCV001189407 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-02-06 | criteria provided, single submitter | clinical testing | The c.78dupT pathogenic mutation, located in coding exon 1 of the BRIP1 gene, results from a duplication of T at nucleotide position 78, causing a translational frameshift with a predicted alternate stop codon (p.A27Cfs*42). 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. |
Institute of Medical Genetics and Applied Genomics, |
RCV001267999 | SCV001446567 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001390437 | SCV001592175 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2024-01-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala27Cysfs*42) 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 ovarian cancer (PMID: 26315354). ClinVar contains an entry for this variant (Variation ID: 548896). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003316794 | SCV004019331 | pathogenic | Familial cancer of breast | 2023-02-27 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |