ClinVar

Description

The BRCA2 p.Gln2899= variant was not identified in the literature nor was it identified in the LOVD 3.0, or UMD-LSDB databases. The variant was identified in dbSNP (ID: rs786203707) as " With Uncertain significance allele", and in ClinVar (4x as likely benign by ENIGMA, GeneDx, Ambry and Colour and 2x as Uncertain Significance by Invitae and LabCorp.). The variant was not identified in the following control databases: the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The p.Gln2899= variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. The variant occurs outside of the splicing consensus sequence and 3 of 4 in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) predict a greater than 10% difference in the creation of a new splice site. However, this information is not predictive enough to assume pathogenicity. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time. This variant is classified as a variant of uncertain significance.