rs1555572833

Description

The p.K1040T variant (also known as c.3119A>C), located in coding exon 19 of the BRIP1 gene, results from an A to C substitution at nucleotide position 3119. The lysine at codon 1040 is replaced by threonine, an amino acid with similar properties. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than120000alleles tested) in our clinical cohort.This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is 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 alterationremains unclear.