ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2461G>C (p.Ala821Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002450572 SCV002732313 uncertain significance Hereditary cancer-predisposing syndrome 2020-04-21 criteria provided, single submitter clinical testing The p.A821P variant (also known as c.2461G>C), located in coding exon 16 of the BRIP1 gene, results from a G to C substitution at nucleotide position 2461. The alanine at codon 821 is replaced by proline, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005025823 SCV005654108 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2024-05-22 criteria provided, single submitter clinical testing

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