rs149145548

Description

RELA NM_021975.3 exon 11 p.Tyr360= (c.1080T>C): This variant has not been reported in the literature but is present in 0.4% (40/9624) of Ashkenazi Jewish alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs149145548). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.