ClinVar Miner

Submissions for variant NM_001085049.3(MRAS):c.528-2del

dbSNP: rs541655371
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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 (formerly Invitae), Labcorp RCV000586951 SCV001097428 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000586951 SCV003916847 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing MRAS: BS2
PreventionGenetics, part of Exact Sciences 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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.