ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.257G>A (p.Cys86Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1323005329
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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 RCV001016004 SCV001176907 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-18 criteria provided, single submitter clinical testing The p.C86Y variant (also known as c.257G>A), located in coding exon 3 of the BRIP1 gene, results from a G to A substitution at nucleotide position 257. The cysteine at codon 86 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. 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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