Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000130909 | SCV000185818 | pathogenic | Hereditary cancer-predisposing syndrome | 2013-11-18 | criteria provided, single submitter | clinical testing | ​The c.1114_1116delCTTinsAT pathogenic mutation, located in coding exon 7 of the BRIP1 gene, results from the deletion of three nucleotides and the insertion of two nucleotides, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
Invitae | RCV000822648 | SCV000963458 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2018-11-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has not been reported in the literature in individuals with BRIP1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu372Ilefs*2) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV003336221 | SCV004044402 | 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. |