ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.59-12C>A

dbSNP: rs202245096
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
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV003408115 SCV004123211 likely benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2023-11-13 reviewed by expert panel curation The NM_001754.5(RUNX1):c.59-12C>A variant is intronic and is located upstream to exon 3. The MAF of this variant is 0.00001613. However, in the East Asian subpopulation of the gnomAD v2.1.1 cohort, MAF is 0.0002190 (0.02190%, 4/248018 alleles), which is between 0.00015 (0.015%) and 0.0015 (0.15%) (BS1). In addition, splicing algorithms predicted no effect on splicing (SpliceAI score 0.08 < 0.20) (BP4) and evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP100way (GRCh38/hg38) score 0.368 < 2.0) (BP7). To our knowledge, this variant has not been found in patients with FPD/AML phenotype and no functional studies are available. In summary, this variant meets the criteria to be classified as likely benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BS1, BP4, and BP7.
Labcorp Genetics (formerly Invitae), Labcorp RCV002111461 SCV002390671 likely benign Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 2023-09-04 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.