ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.769_777dup (p.Ala257_Ile259dup)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818568 SCV000959187 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-12-31 criteria provided, single submitter clinical testing This variant, c.769_777dup, results in the insertion of 3 amino acids to the BRIP1 protein (p.Ala257_Ile259dup), 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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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