ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3441T>A (p.Asn1147Lys)

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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 RCV002457128 SCV002614683 uncertain significance Hereditary cancer-predisposing syndrome 2020-12-17 criteria provided, single submitter clinical testing The p.N1147K variant (also known as c.3441T>A), located in coding exon 19 of the BRIP1 gene, results from a T to A substitution at nucleotide position 3441. The asparagine at codon 1147 is replaced by lysine, 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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