ClinVar Miner

Submissions for variant NM_001754.5(RUNX1):c.98-1560C>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV004595747 SCV005088359 benign Hereditary thrombocytopenia and hematologic cancer predisposition syndrome 2024-06-24 reviewed by expert panel curation NM_001754.5(RUNX1):c.98-1560C>T is an intronic variant. MAF of 0.0.05199 (5.19%, 251/1328, 4828 alleles) in the South Asian subpopulation of the gnomAD v3.1.2 cohort is ≥ 0.0015 (0.15%) (BA1). There are 12 homozygotes present in gnomAD v3.1.2 (BP2). This variant is not a missense variant therefore will not have a REVEL score and SpliceAI score <0.20 (0.00) (BP4). Evolutionary conservation prediction algorithms predict the site as not being conserved (PhyloP score 0.82 < 2.0 or the variant is the reference nucleotide in one primate and/or three mammal species) (BP7). In summary, this variant meets criteria to be classified as benign. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: BA1, BP2, BP4, BP7.

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