Table 4. ATM variants (RefSeq... | American Society of Hematology

Table 4.

ATM variants (RefSeq NM_000051.3) reported in AML in different studies

Variant ID	Study of origin (Reference)	Participants	Source	c.HGVS	p.HGVS	VAF	Clinical interpretation	AML subtype
1	Beat AML (14)	391	Germ line	11:g.108100039G>A	p.Cys107Tyr	>0.4	VUS	NA
2				11:g.108106399G>A	p.Ala112Thr	>0.4	VUS	NA
3				11:g.108117735T>C	p.Tyr316His	>0.4	VUS	NA
4				11:g.108126944T>G	p.Ile709Met	>0.4	VUS	NA
5				11:g.108128233G>A	p.Ser759Leu	>0.4	VUS	NA
6				11:g.108128311G>A	p.Arg785His	>0.4	VUS	NA
7				11:g.108153522G>A	p.Trp1221∗	>0.4	P	AML-DD
8				11:g.108172382G>C	p.Val1729Leu	>0.4	VUS	NA
9				11:g.108172464C>G	p.Thr1756Arg	>0.4	VUS	NA
10				11:g.108186817A>G	p.Thr2059Ala	>0.4	VUS	NA
11				11:g.108200946C>T	p.Thr2438Ile	>0.4	VUS	NA
12				11:g.108206605C>T	p.Gln2729∗	>0.4	P	AML-MR
13				11:g.108236095A>G	p.Met3011Val	>0.4	VUS	NA
14	Beat AML²⁰	531	Somatic	11:g.108121469G>T	p.Ser426Ile	0.08	VUS	NA
15				11:g.108236153G>A	p.Gly3030Glu	0.25	VUS	NA
16	TCGA PanCancer Atlas (22)	142	Germ line	11:g.108202673_108202676delCAAA	p.Asn2567fs	0.42	LP	NA
17	TCGA PanCancer Atlas	200	Somatic		p.Lys2838Ile	0.07	VUS	NA
18	Washington University²¹	60	Somatic	11:g.108172385C>T	p.Arg1730∗	0.08	LP/P	AML-DD
19	Samsung Medical Center (23)	180	NA	c.2251-10T>G	c.2251-10T>G	0.52	P	NA
20				c.8794G>A	p.Glu2932Lys	0.4	VUS	NA
Total		971

Variant ID	Study of origin (Reference)	Participants	Source	c.HGVS	p.HGVS	VAF	Clinical interpretation	AML subtype
1	Beat AML (14)	391	Germ line	11:g.108100039G>A	p.Cys107Tyr	>0.4	VUS	NA
2				11:g.108106399G>A	p.Ala112Thr	>0.4	VUS	NA
3				11:g.108117735T>C	p.Tyr316His	>0.4	VUS	NA
4				11:g.108126944T>G	p.Ile709Met	>0.4	VUS	NA
5				11:g.108128233G>A	p.Ser759Leu	>0.4	VUS	NA
6				11:g.108128311G>A	p.Arg785His	>0.4	VUS	NA
7				11:g.108153522G>A	p.Trp1221∗	>0.4	P	AML-DD
8				11:g.108172382G>C	p.Val1729Leu	>0.4	VUS	NA
9				11:g.108172464C>G	p.Thr1756Arg	>0.4	VUS	NA
10				11:g.108186817A>G	p.Thr2059Ala	>0.4	VUS	NA
11				11:g.108200946C>T	p.Thr2438Ile	>0.4	VUS	NA
12				11:g.108206605C>T	p.Gln2729∗	>0.4	P	AML-MR
13				11:g.108236095A>G	p.Met3011Val	>0.4	VUS	NA
14	Beat AML²⁰	531	Somatic	11:g.108121469G>T	p.Ser426Ile	0.08	VUS	NA
15				11:g.108236153G>A	p.Gly3030Glu	0.25	VUS	NA
16	TCGA PanCancer Atlas (22)	142	Germ line	11:g.108202673_108202676delCAAA	p.Asn2567fs	0.42	LP	NA
17	TCGA PanCancer Atlas	200	Somatic		p.Lys2838Ile	0.07	VUS	NA
18	Washington University²¹	60	Somatic	11:g.108172385C>T	p.Arg1730∗	0.08	LP/P	AML-DD
19	Samsung Medical Center (23)	180	NA	c.2251-10T>G	c.2251-10T>G	0.52	P	NA
20				c.8794G>A	p.Glu2932Lys	0.4	VUS	NA
Total		971

Only bold numbers of participants have been summed for the total number of patients of study to avoid duplicated registries.

HGVS, Human Genome Variation Society.