ClinVar

Description

The RAD51C c.145+12T>G variant was not identified in the literature or in Cosmic, MutDB, and LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs377297129) “With Likely benign allele”, ClinVar (classified as benign by GeneDx and likely benign by Counsyl), Clinvitae (3x), and in control databases in 39 of 276870 chromosomes at a frequency of 0.0001 increasing the likelihood that this may be a low frequency benign variant in certain populations of origin (Genome Aggregation Consortium Feb 27, 2017); seen in the following populations: African in 1 of 24024 chromosomes (frequency: 0.00004), Latino in 1 of 34412 chromosomes (frequency: 0.00003), and European Non-Finnish in 37 of 126410 chromosomes (frequency: 0.0003). The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.