File:ClinGen RUNX1 germline mutation landscape.jpg: Difference between revisions
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Schematic of RUNX1 exonic distribution, protein isoforms, and functional domain structure with all 52 pilot variants and their final MM-VCEP classification. (A) Isoform C with RHD, transactivation domain (TAD), and the VWRPY motif and location of all 4... |
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== Summary == | ==Summary== | ||
Schematic of RUNX1 exonic distribution, protein isoforms, and functional domain structure with all 52 pilot variants and their final MM-VCEP classification. (A) Isoform C with RHD, transactivation domain (TAD), and the VWRPY motif and location of all 49 single-nucleotide pilot variants with their final MM-VCEP classification. PATH and LPATH variants are shown at the top, and VUS, LBEN, and BEN variants are shown at the bottom. The exonic distribution of isoform C is displayed below. (B) Schematic of RUNX1 isoforms A, B, and C and their functional domains. Regions in gray are unique to 1 isoform. The 3 pilot CNVs are shown at the bottom, with the deletion of exons 2 and 3 exclusively affecting the N-terminal 33 AA of isoform C. | Schematic of RUNX1 exonic distribution, protein isoforms, and functional domain structure with all 52 pilot variants and their final MM-VCEP classification. (A) Isoform C with RHD, transactivation domain (TAD), and the VWRPY motif and location of all 49 single-nucleotide pilot variants with their final MM-VCEP classification. PATH and LPATH variants are shown at the top, and VUS, LBEN, and BEN variants are shown at the bottom. The exonic distribution of isoform C is displayed below. (B) Schematic of RUNX1 isoforms A, B, and C and their functional domains. Regions in gray are unique to 1 isoform. The 3 pilot CNVs are shown at the bottom, with the deletion of exons 2 and 3 exclusively affecting the N-terminal 33 AA of isoform C. | ||
(PATH – pathogenic, LPATH – likely pathogenic, VUS – variants of unclear significance, LBEN – likely benign, and BEN – benign) | (PATH – pathogenic, LPATH – likely pathogenic, VUS – variants of unclear significance, LBEN – likely benign, and BEN – benign) | ||
Luo X et al. (2019) doi: 10.1182/bloodadvances.2019000644<ref>{{Cite journal|last=X|first=Luo|last2=S|first2=Feurstein|last3=S|first3=Mohan|last4=Cc|first4=Porter|last5=Sa|first5=Jackson|last6=S|first6=Keel|last7=M|first7=Chicka|last8=Al|first8=Brown|last9=C|first9=Kesserwan|date=2019|title=ClinGen Myeloid Malignancy Variant Curation Expert Panel Recommendations for Germline RUNX1 Variants|url=https://pubmed.ncbi.nlm.nih.gov/31648317/|language=en|doi=10.1182/bloodadvances.2019000644|pmc=PMC6849945|pmid=31648317}}</ref> | |||
