ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3374_3376del (p.Ala1125del) (rs745344948)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168472 SCV000219173 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2019-12-03 criteria provided, single submitter clinical testing This variant, c.3374_3376delCAG, results in the deletion of 1 amino acid of the BRIP1 protein (p.Ala1125del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs745344948, ExAC 0.02%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 188402). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid 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.
GeneDx RCV000485677 SCV000572021 uncertain significance not provided 2016-10-13 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in BRIP1 is denoted c.3374_3376delCAG at the cDNA level and p.Ala1125del (A1125del) at the protein level. The normal sequence, with the bases that are deleted in braces, is GAAG[CAG]AAGA. This deletion of a single Alanine residue occurs at a position that is not conserved and is not located in a known functional domain (Cantor 2011). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRIP1 Ala1125del to be a variant of uncertain significance.
Ambry Genetics RCV001020125 SCV001181562 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-23 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV001020125 SCV001339554 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.