ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1687_1689del (p.Asp563del) (rs780590493)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220814 SCV000279270 uncertain significance not provided 2016-05-09 criteria provided, single submitter clinical testing This deletion of 3 nucleotides in BRIP1 is denoted c.1687_1689delGAT at the cDNA level and p.Asp563del at the protein level. The normal sequence, with the bases that are deleted in braces, is GATT[GAT]ATTT. This in frame deletion of a single Aspartic Acid residue occurs at a position that is not conserved across species and is located in the helicase 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 c.1687_1689delGAT to be a variant of uncertain significance.
Color RCV000583577 SCV000689278 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000701766 SCV000830582 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-02-25 criteria provided, single submitter clinical testing This variant, c.1687_1689delGAT, results in the deletion of 1 amino acid of the BRIP1 protein (p.Asp563del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780590493, ExAC 0.003%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 234459). 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.

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