ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1583A>G (p.Lys528Arg)

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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 RCV002398268 SCV002705625 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-16 criteria provided, single submitter clinical testing The p.K528R variant (also known as c.1583A>G), located in coding exon 10 of the BRIP1 gene, results from an A to G substitution at nucleotide position 1583. The lysine at codon 528 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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