Table 3.

Classifications for Variations of BRCA1 according to C‐score

Protein	Position	Coding	MAF	Number of Patients	PolyPhen2	SIFT	CinVar	C‐score	Our Classification
p.Leu63Ter	chr17:41258497	c.188T>A	NA	1	NA	NA	Deleterious	39	Deleterious
p.Gln934Ter	chr17:41244748	c.2800C>T	NA	2	NA	NA	Deleterious	35	Deleterious
p.Glu1257fs	chr17:41243776	c.3770_3771delAG	NA	1	NA	NA	Deleterious	25.6	Deleterious
p.Lys652fs	chr17:41245594	c.1952_1953insG	NA	1	NA	NA	Deleterious	24.2	Deleterious
Total Number				5
Protein	Position	Coding	MAF	Number of Patients	PolyPhen2	SIFT	CinVar	C‐score	Our Classification
p.Leu52Phe	chr17:41258531	c.154C>T	NA	1	Probably_damaging	Deleterious	VUS	28.3	VUS
p.Val1653Leu	chr17:41222974	c.4957G>T	NA	2	Benign	Deleterious	nd	25	VUS
p.Val271Met	chr17:41246737	c.811G>A	0	1	Possibly_damaging	Tolerated	VUS	24.2	VUS
p.Ala1773Gly	chr17:41209091	c.5318C>G	NA	1	Benign	Deleterious	nd	24.1	VUS
p.Tyr856His	chr17:41244982	c.2566T>C	0.003	5	Possibly_damaging	Tolerated	Benign	23	Benign
p.Gln94His	chr17:41256904	c.282G>T	NA	1	Benign	Deleterious	nd	22.3	VUS
p.Ser1125Thr	chr17:41244175	c.3373T>A	NA	1	Probably_damaging	Deleterious	nd	19.26	VUS
p.Ser1577Pro	chr17:41223202	c.4729T>C	NA	3	Benign	Tolerated	Conflicting	11.33	Benign
p.Met1628Thr	chr17:41223048	c.4883T>C	0.004	9	Benign	Tolerated	Benign	0.023	Benign
p.Asn1236Ser	chr17:41243841	c.3707A>G	NA	1	Benign	Tolerated	Conflicting	0.001	Benign
p.Asn1018Ser	chr17:41244495	c.3053A>G	NA	1	Benign	Tolerated	nd	0.001	Benign
p.Asn1236Ser	chr17:41243841	c.3707A>G	NA	1	Benign	Tolerated	Conflicting	0.001	Benign
p.Gly401Glu	chr17:41246346	c.1202G>A	NA	1	Benign	Tolerated	Conflicting	0.001	Benign
Total Number				38

MAF, Minor Allele Frequency; NA, Not Applicable; nd, not documented; VUS, Vaiant of Uncertain Significance.