ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.1966A>G (p.Lys656Glu)

dbSNP: rs1603328913
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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 RCV001013889 SCV001174527 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-25 criteria provided, single submitter clinical testing The p.K656E variant (also known as c.1966A>G), located in coding exon 13 of the BRIP1 gene, results from an A to G substitution at nucleotide position 1966. The lysine at codon 656 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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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