rs1555572950

Description

The p.I985M variant (also known as c.2955T>G), located in coding exon 19 of the BRIP1 gene, results from a T to G substitution at nucleotide position 2955. The isoleucine at codon 985 is replaced by methionine, an amino acid with highly similar properties. 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. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 120000alleles tested) in our clinical cohort.​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 p.I985Mremains unclear.