Table 3.

Spectrum of ATM gene variants in the North Indian patients with A-T.

Case no	Zygosity	Variants				Affected ATM protein domain	Clinical significance*
		Exon	cDNA nucleotide change	Protein change	Type
3	CH	24	c.3546_3547delGA	p.Asn1183TrpfsTer16	Frameshift	HEAT	Pathogenic
		50	c.7456C>T	p.Arg2486Ter	Nonsense	FAT	Pathogenic
4	H	45	c.6547G>T	p.Glu2183Ter	Nonsense	FAT	Pathogenic
5#	H	45	c.6547 G>T	p.Glu2183Ter	Nonsense	FAT	Pathogenic
6#	H	45	c.6547 G>T	p.Glu2183Ter	Nonsense	FAT	Pathogenic
7	CH	10	c.1339C>T	p.Arg447Ter	Nonsense	HEAT	Pathogenic
		58	c.8473C>T	p.Gln2825Ter	Nonsense	PI3K	Pathogenic
8	H	Intron 42–43	c.6198+1G>T	Splice site variant	Donor splicing variant	FAT	Likely pathogenic
9	H	2	c.67 C>T	p. Arg23Ter	Nonsense	N-terminal-TAN	Pathogenic
10	H	46	c.6658 C>T	p.Gln2220Ter	Nonsense	FAT	Pathogenic
11	CH	10	c.1339C>T	p.Arg447Ter	Nonsense	HEAT	Pathogenic
		58	c.8473C>T	p.Gln2825Ter	Nonsense	PI3K	Pathogenic
12	H	43	c.6219_6229delCTGCCATATTC	p.Cys2074PhefsTer10	Frameshift	FAT	Pathogenic
13	H	2	c.67C>T	p.Arg23Ter	Nonsense	N-terminal-TAN	Pathogenic
14	H	42	c.6100C>T	p.Arg2034Ter	Nonsense	FAT	Pathogenic
15	CH	2	c.67C>T	p.Arg23Ter	Nonsense	N-terminal-TAN	Pathogenic
		Intron 20–21	c.3077+1G>T	Splice site variant	Donor splicing variant	HEAT	Likely pathogenic
16	CH	37	c.5631_5635delCTCGCinsA	p.Phe1877LeufsTer39	Frameshift	HEAT	Pathogenic
		49	c.7307G>A	p.Arg2436Lys	Missense variant (affecting donor splice site)	FAT	VUS
17	H	52	c.7788G>C	p.Glu2596Asp	Missense variant (affecting donor splice site)	FAT-PI3K	VUS
18	CH	37	c.5631_5635delCTCGCinsA	p.Phe1877LeufsTer39	Frameshift	HEAT	Pathogenic
		49	c.7307G>A	p.Arg2436Lys	Missense variant (affecting donor splice site)	FAT	VUS
26	H	37	c.5631_5635delCTCGCinsA	p.Phe1877LeufsTer39	Frameshift	HEAT	Pathogenic

^#Siblings; CH compound heterozygous, H homozygous, PI3K phosphatidylinositol 3-kinase, FAT FAT domain, TAN telomere-length maintenance and DNA damage repair domain, VUS variant of uncertain significance. *As per ACMG guidelines.