ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2057C>A (p.Thr686Asn)

dbSNP: rs1603328535
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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 RCV001014258 SCV001174948 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-04 criteria provided, single submitter clinical testing The p.T686N variant (also known as c.2057C>A), located in coding exon 13 of the BRIP1 gene, results from a C to A substitution at nucleotide position 2057. The threonine at codon 686 is replaced by asparagine, 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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