ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.418G>C (p.Ala140Pro)

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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 RCV003171878 SCV003859945 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-12 criteria provided, single submitter clinical testing The p.A140P variant (also known as c.418G>C), located in coding exon 4 of the BRIP1 gene, results from a G to C substitution at nucleotide position 418. The alanine at codon 140 is replaced by proline, 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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