Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000586951 | SCV000699336 | benign | not provided | 2017-07-05 | criteria provided, single submitter | clinical testing | Variant summary: The MRAS c.528-2delA (or c.528-5delA when 3-unprimed) variant involves deletion of a nucleotide adenine in a stretch of four adenine nucleotides from position 528-5 to 528-2 in intron 5. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1093/120244 control chromosomes (14 homozygotes) from ExAC, predominantly observed in the European (Finnish) subpopulation at a frequency of 0.045413 (300/6606). This frequency is about 18165 times the estimated maximal expected allele frequency of a pathogenic MRAS variant (0.0000025), thus it is a benign polymorphism found primarily in the populations of European (Finnish) origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Taken together, this variant is classified as benign. |
Labcorp Genetics |
RCV000586951 | SCV001097428 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000586951 | SCV003916847 | likely benign | not provided | 2024-11-01 | criteria provided, single submitter | clinical testing | MRAS: BS2 |
Prevention |
RCV003915685 | SCV004728786 | benign | MRAS-related disorder | 2019-11-15 | no assertion criteria provided | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |