ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1571_1573del (p.Gln524_Ile525delinsLeu) (rs1064795196)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479784 SCV000570774 uncertain significance not provided 2016-06-22 criteria provided, single submitter clinical testing The c.1571_1573delAAA variant in the BRIP1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.1571_1573delAAA variant causes an in-frame replacement of codons Glutamine 524 to Isoleucine 525 with a Leucine, denoted p.Gln524_Ile525delinsLeu. The c.1571_1573delAAA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is not conserved. We interpret c.1571_1573delAAA as a variant of uncertain significance.
Invitae RCV000636167 SCV000757599 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2017-08-24 criteria provided, single submitter clinical testing This variant, c.1571_1573delAAA, results in the deletion of 2 amino acids and an insertion of 1 amino acid of the BRIP1 protein (p.Gln524_Ile525delinsLeu), 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 disease. ClinVar contains an entry for this variant (Variation ID: 421534). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted 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.
Counsyl RCV000662858 SCV000785741 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-11-13 criteria provided, single submitter clinical testing

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