ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3640A>G (p.Lys1214Glu)

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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 RCV002452436 SCV002613753 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-01 criteria provided, single submitter clinical testing The p.K1214E variant (also known as c.3640A>G), located in coding exon 19 of the BRIP1 gene, results from an A to G substitution at nucleotide position 3640. The lysine at codon 1214 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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