ClinVar

Description

The RAD50 c.1094G>A variant is predicted to result in the amino acid substitution p.Arg365Gln. This variant has been reported as a variant of uncertain significance in patients tested using a panel of genes for hereditary cancer syndrome (Table S5, Tsaousis et al. 2019. PubMed ID 3115974), as well as in patients with breast or ovarian cancer (Table S9, Bonache et al. 2018. PubMed ID: 30306255; Damiola et al. 2014. PubMed ID 24894818; Table S1, Koczkowska et al. 2018. PubMed ID: 30441849; Table S12, Lu et al. 2015. PubMed ID 26689913; Table 4, Fanale et al. 2020. PubMed ID 32854451). It has also been reported in a metastatic liver biopsy specimen (Table S2, Parachoniak et al. 2017. PubMed ID: 28550065). This variant is reported in 0.061% of alleles in individuals of European (Non-Finnish) descent in gnomAD and has conflicting interpretations regarding its pathogenicity in ClinVar, ranging from likely benign to uncertain (https://www.ncbi.nlm.nih.gov/clinvar/variation/127990/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.