ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3629_3631del (p.Asp1210del) (rs1064794200)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482446 SCV000568170 uncertain significance not provided 2015-11-05 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in BRIP1 is denoted c.3629_3631delATG at the cDNA level and p.Asp1210del (D1210del) at the protein level. The normal sequence, with the bases that are deleted in braces, is ATTG[ATG]GTAA. This deletion of a single Aspartic Acid residue occurs at a position that is not conserved across species and is not located in a known functional domain (Cantor 2011, UniProt). 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 Asp1210del to be a variant of uncertain significance.
Invitae RCV000802727 SCV000942570 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2019-09-11 criteria provided, single submitter clinical testing This variant, c.3629_3631del, results in the deletion of 1 amino acid(s) of the BRIP1 protein (p.Asp1210del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 419945). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV001020755 SCV001182270 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-10 criteria provided, single submitter clinical testing Insufficient evidence

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