Table 5.

ATM variants.

patient	consanguineous parents	affected siblings	cDNA change	protein change	variant type	ACMG classification	ATM protein (activity)	reference
p1-2family1	no	sibling with A-T	c.8655dup c.332-?_8850+?del	p.Val2886Cysfs*10 NA	truncation full gene deletion	5 5	NA	[29]
p3-4family2	yes	3 siblings: A-T, suspected A-T, and not affected	c.7788G > A homozygous	p.Glu2596Glu	aberrant splicing	5	very low (absent)	[16]
p5-7family3	no	2 (p5), 3 (p6), 1 (p7) siblings, none affected	c.3576G > A homozygous	p.Lys1192Lys	aberrant splicing	5	NA	[16]
P8family4	no	1 sibling, not affected	c.3673C > T c.8655dup	p.Gln1225* p.Val2886Cysfs*10	truncation truncation	5 5	NA	[29] [29]
p9family5	yes	2 siblings, not affected	c.3576G > A homozygous	p.Lys1192Lys	aberrant splicing	5	NA	[16]
p10family6	yes	3 siblings, not affected	c.3576G > A homozygous	p.Lys1192Lys	aberrant splicing	5	NA	[16]
p11family7	no	2 siblings, not affected	c.9029T > G c.6095G > A	p.Leu3010Ter p.Arg2032Lys	truncation aberrant splicing	4 5	NA	[30] [15]
p12family8	no	1 sibling, not affected	c.487C > T c.3284G > C	p.Gln163* p.Arg1095Thr	truncation aberrant splicing	5 4	NA	[30] [30]
p13family9	no	1 sibling, not affected	c.3214G > T c.8147T > C	p.Glu1072* p.Val2716Ala	truncation missense	5 5	reduced (normal)	[12] [12]
p14family10	no	4 siblings, 2 with undiagnosed movement disorder	c.6040G > A c.8122G > A	p.Glu2014Lys p.Asp2708Asn	missense missense	3 5	reduced (reduced)	NA [31]

ATM (NM_000051.4) variants including American College of Medical Genetics (ACMG) criteria classification. ATM protein expression was assessed in vitro. A-T, ataxia telangiectasia; ATM, A-T mutated.