Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205570 | SCV000259532 | pathogenic | Familial cancer of breast | 2015-07-22 | criteria provided, single submitter | clinical testing | This sequence change deletes 1 nucleotide in exon 7 of the BRIP1 mRNA (c.866delT), causing a frameshift at codon 289. This creates a premature translational stop signal (p.Val289Alafs*14) and is expected to result in an absent or disrupted protein product. While this particular sequence change has not been reported in the literature, truncating sequence changes in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). For these reasons, this variant has been classified as Pathogenic. |
Invitae | RCV001385848 | SCV001585842 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2015-07-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular sequence change has not been reported in the literature, truncating sequence changes in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This sequence change deletes 1 nucleotide in exon 7 of the BRIP1 mRNA (c.866delT), causing a frameshift at codon 289. This creates a premature translational stop signal (p.Val289Alafs*14) and is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV000205570 | SCV004044581 | 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. |