Table 1 The clinical diagnosis, molecular and cytogenetic profiles of 86 individuals with presumed somatic UBA1 variants.

From: Rapid growth of acquired UBA1 mutations predisposes male patients to low-risk MDS

Pt	Age	Sex	VEXAS	HN	UBA1 variant						Concurrent variants	VAF (%)		Tier	Cytogenetics
Pt	Age	Sex	VEXAS	HN	c.	p.	VAF (%)			Tier	Concurrent variants	VAF (%)		Tier	Cytogenetics
1^a	62	M	Yes	No	c.122 T>C	p.M41T		76	1						-
2^b	65	M	Yes	No	c.122 T>C	p.M41T		S	1						46,XY[20]
3^b	67	M	Yes	No	c.122 T>C	p.M41T		S	1						46,XY[20]
4	62	M	Yes	No	c.122 T>C	p.M41T		S	1						46,XY[20]
5	88	M	Yes	No	c.122 T>C	p.M41T		78	1						46,XY[20]
6	76	M	Yes	No	c.122 T>C	p.M41T		87	1						-
7	87	M	-	-	c.122 T>C	p.M41T		64	1						-
8	88	M	Yes	No	c.122 T>C	p.M41T		78	1						46,XY[20]
9	76	M	Yes	No	c.122 T>C	p.M41T		31	1						46,XY[20]
10^a	73	M	Yes	No	c.122 T>C	p.M41T		31	1						45,-Y[20]
11	70	M	Yes	No	c.122 T>C	p.M41T		38	1						46,XY[20]
12	68	M	-	-	c.122 T>C	p.M41T		64	1						-
13	71	M	Yes	No	c.122 T>C	p.M41T		74	1						46,XY[20]
14	61	M	Yes	PCN	c.121 A>C	p.M41L		40	1						46,XY[20]
15	65	M	Yes	-	c.121 A>C	p.M41L		35	1						-
16^a	68	M	Yes	No	c.121 A>C	p.M41L		70	1						46,XY[20]
17	74	M	-	-	c.121 A>C	p.M41L		62	1						-
18	73	M	Yes	No	c.121 A>C	p.M41L		75	1						-
19	74	M	-	-	c.121 A>C	p.M41L		47	1						-
20	70	M	Yes	No	c.121 A>C	p.M41L		77	1						-
21	66	M	Yes	No	c.121 A>C	p.M41L		63	1						46,XY[20]
22	68	M	Yes	No	c.121 A>C	p.M41L		30	1						46,XY[20]
23	68	M	-	-	c.121 A>G	p.M41V		16	1						-
24	86	M	-	-	c.121 A>G	p.M41V		42	1						-
25	83	M	-	-	c.121 A>G	p.M41V		72	1						46,XY[20]
26	62	M	-	-	c.121 A>G	p.M41V		43	1						46,XY[20]
27	75	M	Yes	No	c.121 A>G	p.M41V		66	1						46,XY[20]
28	63	M	Yes	No	c.121 A>G	p.M41V		S	1						46,XY[20]
29	78	M	-	-	c.121 A>G	p.M41V		10	1						-
30	62	M	Yes	No	c.121 A>G	p.M41V		69	1						46,XY[20]
31	78	M	Yes	No	c.121 A>G	p.M41V		13	1						46,XY[20]
32	76	M	-	-	c.118-1 G>C	p.?		33	1		UBA1 c.121 A>G, p.M41V	1	1		-
33	81	M	-	-	c.118-1 G>C	p.?		15	1						-
34^a	59	M	Yes	No	c.118-5_118-1del	p.?		54	1						-
35	68	M	Yes	No	c.1430 G>C	p.G477A		82	1						46,XY[20]
36	80	M	Yes	No	c.122 T>C	p.M41T		54	1		DNMT3A c.1979A>G, p.Y660C	27	1		46,XY[20]
37	73	M	Yes	No	c.122 T>C	p.M41T		5	1		DNMT3A c.983del, p.V328fs	32	1		46,XY[20]
38	74	M	-	-	c.121 A>C	p.M41L		75	1		DNMT3A c.1904G>A, p.R635Q	33	1		-
39^a	87	M	Yes	No	c.121 A>C	p.M41L		55	1		DNMT3A c.977 G>A, p.R326H	25	1		-
40	74	M	Yes	No	c.121 A>C	p.M41L		66	1		DNMT3A c.1627 G>T, p.G543C	45	1		-
41	74	M	Yes	No	c.121 A>C	p.M41L		82	1		DNMT3A c.1429+1 G>A, p.?	40	1		46,XY[20]
42	79	M	Yes	No	c.121 A>C	p.M41L		45	1		DNMT3A c.2096 G>A, p.G699D DNMT3A c.2006C>A, p.S669Y	21 13	1 2		46,XY,del(20)(q11.2q13.1)[5]/46,XY[15]
43	80	M	Yes	No	c.121 A>G	p.M41V		57	1		DNMT3A c.1667_1667+6del, p.R556fs	45	1		46,XY[20]
44^a	66	M	Yes	No	c.122 T>C	p.M41T		19	1		DNMT3A c.2645 G>A, p.R882H KDM6A c.2366_2369del, p.T789fs	11 2	1 1		46,XY[20]
45^a	65	M	Yes	No	c.121 A>G	p.M41V		59	1		DNMT3A c.2155 G>C, p.A719P ZRSR2 c.1362del, p.S455fs	26 6	2 2		-
46	64	M	Yes	No	c.122 T>C	p.M41T		67	1		DNMT3A c.2645 G>A, p.R882H TP53 c.475_4756dup p.M160fs	46 2	1 1		46,XY[20]
47	88	M	No	MDS	c.121 A>C	p.M41L		5	1		DNMT3A c.2645 G>A, p.R882H IDH1 c.394 C>T, p.R132C CUX1 c.530+1 G>A, p.? SRSF2 c.284 C>G, p.P95R	38 40 4 39	1 1 1 1		-
48	74	M	Yes	MDS	c.121 A>C	p.M41L		80	1		DNMT3A c.2645 G>A, p.R882H JAK2 c.1849G>T, p.V617F	41 7	1 1		47,XY, + 9,der(1;9)(q10;p10)[5]/46,XY[15]
49	86	M	Yes	MDS	c.122 T>C	p.M41T		70	1		DNMT3A c.2662 C>A, p.L888M SAMD9 c.2522 C>T, p.P841L SF3B1 c.1998G>C, p.K666N	6 35 4	2 2 1		46,XY[20]
50	81	M	Yes	-	c.122 T>C	p.M41T		79	1		DNMT3A c.1120 C>T, p.Q374^a TET2 c.3640 C>T, p.R1214W	42 32	1 1		-
51	82	M	Yes	No	c.122 T>C	p.M41T		64	1		TET2 c.1118_1122del, p.Q373fs	4	1		46,XY[20]
52	82	M	No	PCN	c.121 A>C	p.M41L		9	1		TET2 c.3897 G>A, p.C1298Y	30	1		46,XY[20]
53	77	M	Yes	No	c.163 T>C	p.Y55H		82	1		TET2 c.4546 C>T, p.R1516	39	1		46,XY[20]
54	74	M	Yes	MDS	c.122 T>C	p.M41T		38	1		TET2 c.3629dup, p.C1211fs RUNX1 c.602 G>A, p.R201Q CUX1 c.1114 G>A, p.A372T	4 11 35	1 1 2		46,XY,del9q13q33[17]/46XY[9]
55	78	M	Yes	MDS	c.121 A>C	p.M41L		40	1		TET2 c.4501 C>T, p.Q1501^a SRSF2 c.284 C>T, p.P95L ZRSR2 c.827+1 G>C, p.? ZRSR2 c.99dup, p.L34fs RUNX1 c.329 A>C, p.K110T PHF6 c.941 T>C, p.I314T TET2 c.3501-3 A>G, p.? GNAS c.602 G>A, p.R201H	42 38 19 2 19 12 40 15	1 1 1 1 1 1 2 1		46,XY[20]
56	80	M	Yes	MDS	c.1432 G>T	p.A478S		91	1		TET2 c.2520del, p.V841fs TET2 c.4208dup, p.N1403fs SRSF2 c.284 C>A, p.P95H	1 3 45	1 1 1		46,XY[14]
57	86	M	Yes	MDS	c.121 A>C	p.M41L		24	1		ASXL1 c.1934dup, p.G646fs IDH1 c.395 G>A, p.Arg132His KDM6A c.1024del, p.Ile342fs TET2 c.1876C>T, p.Gln626^a TET2 c.4354 C>T, p.Arg1452^a SH2B3 c.1265dup, p.Gln423fs SH2B3 c.1501del, p.Ser502fs SH2B3 c.821 C>T, p.Thr274Ile	8 5 3 12 12 5 4 6	1 1 1 1 1 1 1 2		-
58	83	M	Yes	No	c.121 A>C	p.M41L		74	1		ASXL1 c.1902_1924del, p.E635fs	27	1		46,XY[20]
59	69	F	No	CML	c.121 A>G	p.M41V		24	1		ASXL1 c.1772dup, p.Y591^a	49	1		46,XX,t(9;22)(q34;q11.2)[20]
60	58	M	No	LPL	c.118-10_118-1del	p.?		2	1		ASXL1 c.2555 C>G, p.S852^a U2AF1 c.470 A>C, p.Q157P PRPF8 c.4715 C>G, p.S1572C MYD88 c.794 T>C, p.L265P FLT3 c.2449 G>A, p.V817M	26 20 8 10 9	1 1 2 1 2		46,XY[20]
61	87	M	No	MDS/ PCN	c.122 T>C	p.M41T		S	1		SF3B1 c.1984C>T, p.H662Y	6	1		46,XY[20]
62	74	M	-	-	c.122 T>C	p.M41T		41	1		ZRSR2 c.1186 G>T, p.E396^a	32	1		-
63	83	M	Yes	No	c.121 A>C	p.M41L		59	1		TP53 c.536 A>G, p.H179R PPM1D c.1508 C>A, p.S503Te	1 1	1 1		-
64	68	M	Yes	No	c.121 A>G	p.M41V		S	1		TP53 c.814 G>A p.V272M	9	1		45,X,-Y,t(1;15)(q23;q15)?c[20]
65	80	M	Yes	-	c.122 T>C	p.M41T		82	1		STAG2 c.893 G>A, p.R298H	82	1		46,XY[20]
66	90	M	Yes	MDS	c.1432 G>T	p.A478S		56	1		CEBPA c.611del, p.P204fs STAG2 c.646 C>T, p.R216^a EZH2 c.2011C>G, p.L671V	19 31 18	1 1 1		46,XY[20]
67	69	F	No	AML	c.416 A>T	p.N139I		7	2		NPM1 c.860_863dup, p.W288fs DNMT3A c.2479-2 A>G, p.? KRAS c.38 G>A, p.G13D	5 13 6	1 1 1		-
68	72	M	No	AML	c.2972 C>A	p.S991Y		7	2		JAK2 c.1849G>T, p.V617F DNMT3A c.2645 G>A, p.R882H DNMT3A c.1516_1517insGGGGT, p.H506fs TET2 c.1362del, p.K454f GNAS c.601 C>T, p.R201C CBL c.1237_1251del, p.G413_P417del	9 18 2 1 7 2	1 1 1 1 1 2		45~47,X,-X,add(7)(p13),+21,+mar[cp15]/46,XX[5]
69	74	M	No	AML	c.2861dup	p.L954fs		1	2		NPM1 c.863_864insTACG, p.W288fs TET2 c.1207 C>T, p.Q403^a TET2 c.3633 T>A, p.C1211^a	2 40 34	1 1 1		46,XY[20]
70	74	M	No	MDS	c.901 A>G	p.I301V		3	2		SF3B1 c.1997A>G p.K666R SRSF2 c.284 C>A p.P95H TET2 c.1755_1758del p.L586fs	8 33 33	1 1 1		46,XY[20]
71	60	M	-	-	c.209 T>A	p.L70H		4	2		PPM1D c.1362del, p.E455fs TET2 c.2020 C>T, p.Q674^a TET2 c.5245del, p.M1749fs	8 6 1	1 1 1		-
72	77	M	No	MDS	c.2668 A>T	p.I890F		69	2		ASXL1 c.2254dup, p.A752fs PTPN11 c.172 A>T, p.N58Y NRAS c.34 G>A, p.G12S TET2 c.2153_2163del p.L718fs TET2 c.4265_4266del p.K1422fs	3 24 2 1 27	1 1 1 1 1		-
73	83	M	No	CMML	c.3145 G>A	p.E1049K		8	2		ASXL1 c.1934dup p.G646fs EZH2 c.2192 A>G p.Y731C RUNX1 c.1406_1407insT p.A470fs TET2 c.824_831del p.N275fs TET2 c.3755 T>C p.L1252P EZH2 c.1574 A>G p.Y525C ZRSR2 c.802 G>C p.G268R	39 27 1 2 29 23 54	1 1 1 1 2 2 2		46,XY[20]
74	82	M	No	MDS	c.1516 G>A	p.D506N		7	2		ASXL1 c.1915_1940del, p.T639fs SRSF2 c.283 C>A, p.P95T U2AF1 c.470 A>C, p.Q157P CEBPA c.216del, p.F73fs ZRSR2 c.168del, p.Q56fs STAG2 c.1840C>T, p.R614^a EZH2 c.614_625+1del, p.? TET2 c.2578dup, p.Q860fs	49 37 3 21 74 36 2 77	1 1 1 1 1 1 1 1		-
75^a	77	M	No	CMML	c.1516 G>A	p.D506N		11	2		ASXL1 c.1934dup, p.G646fs SRSF2 c.284 C>A, p.P95H SETBP1 c.2602 G>A, p.D868N LUC7L2 c.61 G>T, p.G21^a	37 45 46 6	1 1 1 1		46,XY[20]
76	66	M	No	AML	c.1516 G>A,	p.D506N		60	2		ASXL1 c.2903dup, p.S968fs	28	1		46,XY,t(3;3)(q21;q26.2),-7,+r[13] /46,idem,t(8;15)(q24.1;q15)[3]/46,XY[4]
77	53	M	No	SM-AHN	c.3155 A>T	p.Y1052F		27	2		SF3B1 c.2098 A>G, p.K700E RUNX1 c.493 G>T, p.G165C RUNX1 c.601 C>T, p.R201^a	13 8 7	1 1 1		-
78^a	72	M	No	Ph^- MPN	c.1548 G>T	p.Q516H		46	2		CALR c.1099_1150del, p.L367fs SF3B1 c.2098 A>G, p.K700E SH2B3 c.1111dup, p.R371fs	43 28 2	1 1 1		50,XX,t(1;2)(p36.1;p21),+8, + 14, + 18, + 20[20]
79	89	F	No	MDS	c.3165 C>A	p.Y1055*		35	2		CBL c.1139 T>C, p.L380P CALR c.665 G>A, p.R222Q	56 38	1 2		45,XX,-7,del11q2q23[15]/46,XX[5]
80	75	M	No	B-LBL	c.1420 G>A	p.V474M		11	2		UBA1 c.1753 G>A, p.D585N U2AF1 c.101 C>T, p.S34F KRAS c.35 G>T, p.G12V	49 43 31	2 1 1		46,XY,t(3;3)(q21;q26.2),-7,+r[13]/ 46,idem,t(8;15)(q24.1;q15)[3]/46,XY[4]
81	69	F	No	CMML	c.2446delA	p.S816fs		43	2		KRAS c.35 G>A, p.G12D	40	1		46,XX[20]
82	69	M	No	MDS	c.1853A>G	p.Y618C		3	2		TP53 c.379 T>C, p.S127P TP53 c.644 G>A, p.S215N	22 17	1 1		45, XX,-5,-12,add(17)(p13),add(21)(q22), -22,+2mar[cp2]/46,XX[12]
83	33	M	No	CML	c.3109 G>A	p.E1037K		75	2		IDH1 c.394 C>T, p.R132C BCOR c.3464del, p.D1155fs	23 7	1 1		46,t(9;22)[19]/XY[20]
84	74	M	-	-	c.698 C>T	p.T233I		70	2						46,XY[20]
85^a	81	M	No	MDS	c.2668 A>T	p.I890F		33	2						46,XX[20]
86	88	F	No	Ph^- MPN	c.2956 G>A	p.E986K		4	2						46,XX,del11q13q21[3]/46,XX[14]

Fifty-three patients with UBA1 PV have documented information on VEXAS (“Yes” versus “No”), among whom 50 have documented information for hematologic neoplasms (HN). Documented VEXAS and HN diagnoses are available in all patients with UBA1 VUS except patients #71 and #84.
HN WHO hematologic neoplasm, No no documented HN; no information, MDS myelodysplastic syndrome, AML acute myeloid leukemia, CMML chronic myelomonocytic leukemia, Ph- MPNs Philadelphia-negative myeloproliferative neoplasms, CML chronic myeloid leukemia, SM-AHN systemic mastocytosis with associated hematologic neoplasm, PCN plasma cell neoplasm, LPL lymphoplasmacytic lymphoma, B-LBL B-lymphoblastic leukemia/lymphoma, tier 1 pathogenic/likely pathogenic variants, tier 2 variants of uncertain significance.
^aPatients have two or more NGS testing in this study (supplementary Fig. 1), and the maximum VAFs of UBA1 variants are reported.
^bVEXAS patients reported in a previous study¹⁵.

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Table 1 The clinical diagnosis, molecular and cytogenetic profiles of 86 individuals with presumed somatic UBA1 variants.

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