ClinVar Miner

Submissions for variant NM_005591.3(MRE11):c.1783+5G>C (rs142082313)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115910 SCV000186079 benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000589610 SCV000842792 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000212570 SCV000149819 likely benign not specified 2014-01-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000589610 SCV000698605 likely benign not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The MRE11A c.1783+5G>C variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict weakening effect on the canonical splicing donor site and ESEfinders predict change of ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 84/121382 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.007407 (77/10396). This frequency is about 119 times the estimated maximal expected allele frequency of a pathogenic MRE11A variant (0.0000625), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely benign until more evidence becomes available.
Invitae RCV000524523 SCV000253446 likely benign Ataxia-telangiectasia-like disorder 1 2017-12-28 criteria provided, single submitter clinical testing

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.