Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000636234 | SCV000757666 | uncertain significance | Familial cancer of breast; Fanconi anemia complementation group J | 2018-01-05 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 11-13 of the BRIP1 gene. It preserves the integrity of the reading frame. Gross deletion of exons 11-13 has been reported in the literature in an individual with ovarian cancer (PMID: 26720728). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |