ClinVar Miner

Submissions for variant NM_005591.4(MRE11):c.1531_1532del (p.Asn511fs)

dbSNP: rs757691558
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012035 SCV001172435 pathogenic Hereditary cancer-predisposing syndrome 2019-11-22 criteria provided, single submitter clinical testing The c.1531_1532delAA pathogenic mutation, located in coding exon 13 of the MRE11A gene, results from a deletion of two nucleotides at nucleotide positions 1531 to 1532, causing a translational frameshift with a predicted alternate stop codon (p.N511Yfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV004794475 SCV005045662 likely pathogenic Hereditary breast ovarian cancer syndrome 2023-03-27 criteria provided, single submitter research

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.