ClinVar Miner

Submissions for variant NM_001370259.2(MEN1):c.-6G>A

gnomAD frequency: 0.00023  dbSNP: rs768088337
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
Baylor Genetics RCV001334472 SCV001527325 uncertain significance Multiple endocrine neoplasia, type 1 2018-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001796447 SCV002032393 likely benign not provided 2021-06-15 criteria provided, single submitter clinical testing Nucleotide substitution has no predicted effect on splicing and is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 32901291)
Genetic Services Laboratory,University of Chicago RCV001820028 SCV002065657 likely benign not specified 2021-10-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001820028 SCV002074218 benign not specified 2022-01-11 criteria provided, single submitter clinical testing Variant summary: MEN1 c.-6G>A is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 0.00016 in 136404 control chromosomes (gnomAD). The observed variant frequency is approximately 8-fold of the estimated maximal expected allele frequency for a pathogenic variant in MEN1 causing Multiple Endocrine Neoplasia Type 1 phenotype (2.1e-05), strongly suggesting that the variant is benign. c.-6G>A has been reported in the literature in individuals affected with Multiple Endocrine Neoplasia Type 1 (Carvalho_2018, Damjanovic_2020). These reports do not provide unequivocal conclusions about association of the variant with Multiple Endocrine Neoplasia Type 1. A co-occurrence with a pathogenic variant has been reported (MEN1 c.628_631delACAG, p.Thr210SerfsX13; UMD), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A ClinVar submitter (evaluation after 2014) cites the variant as likely benign while another ClinVar submitter (evaluation after 2014) cites it as uncertain significance. Based on the evidence outlined above, the variant was classified as benign.

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.