ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1700_1702inv (p.Lys567_Asn568delinsIleTyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002406307 SCV002710145 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-02 criteria provided, single submitter clinical testing The c.1700_1702delAAAinsTTT variant, located in coding exon 11 of the BRIP1 gene, results from an in-frame deletion of AAA and insertion of TTT at nucleotide positions 1700 to 1702. This results in the substitution of lysine and asparagine residues for isoleucine and tyrosine residues at codons 567 and 568. These amino acid positions are well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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