Malini.Sathanoori: /* Summary */

2020-06-15T18:13:39Z

Summary

← Older revision		Revision as of 13:13, 15 June 2020
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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>

Malini.Sathanoori: 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...

2020-06-01T19:42:59Z

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 ==
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)

File:ClinGen RUNX1 germline mutation landscape.jpg - Revision history

Malini.Sathanoori: /* Summary */

Malini.Sathanoori: 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...