ClinVar

Description

This variant is denoted BRCA2 c.2660A>G at the cDNA level, p.Glu887Gly (E887G) at the protein level, and results in the change of a Glutamic Acid to a Glycine (GAG>GGG). Using alternate nomenclature, this variant would be defined as BRCA2 2888A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Glu887Gly was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Glutamic Acid and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Glu887Gly occurs at a position that is not conserved and is not located in a known functional domain. In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Glu887Gly is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.