Prevalence of germline TP53 mutation among early onset middle eastern breast cancer patients

Table 2 Mutation classification according to ACMG TP53* guidelines and computational predictions

Chr	Position	Ref	Alt	Amino Acid	Type	CADD	aGVGD	BayesDel	ACMG_TP53	Alt Depth	Total Depth	VAF
17	7,579,899	T	A	p.Q5L	Missense	6.003	Class C0	0.197777	Likely Pathogenic	40	94	42.6
17	7,577,121	G	A	p.R273C	Missense	25.5	Class C65	0.433271	Likely Pathogenic	256	510	50.2
17	7,577,094	G	A	p.R282W	Missense	26	Class C65	0.542691	Likely Pathogenic	693	1400	49.5
17	7,577,022	G	A	p.R306X	Stop gain	37	NA	0.625005	Pathogenic	186	549	33.9
17	7,573,988	C	T	p.A347T	Missense	27.2	Class C0	0.152476	VUS	195	421	46.3
17	7,578,508	C	T	p.C141Y	Missense	23.8	Class C65	0.561428	Likely Pathogenic	917	2904	31.6
17	7,577,548	C	T	p.G245S	Missense	28.9	Class C55	0.550935	Pathogenic	202	464	43.5
17	7,577,538	C	T	p.R248Q	Missense	28.6	Class C35	0.377622	Pathogenic	170	193	88.1
17	7,577,093	C	A	p.R282L	Missense	27.5	Class C65	0.416469	VUS	56	125	44.8

*TP53 RefSeq NM_000546.6
Note: For aGVGD, Class C15 and higher are considered pathogenic; for BayesDel, scores ≥ 0.16 are considered pathogenic; for CADD, scores ≥ 20 are considered pathogenic.

ISSN: 1897-4287