Identifying Sequence Variants of 18 Hereditary Ovarian Cancer-Associated Genes in Chinese Epithelial Ovarian Cancer Patients

Table 2

Novel variants identified in participants.

Gene	Variant	Protein change	Function change	Cadd	Dann	SIFT score pred	POLYPHEN score pred	Mutationtaster score pred	Class	Patient	Diagnosed age
BRCA1	c.2901delT	p.Pro968Glnfs32	Frameshift	—	—	—	—	—	4	P5	50
BRCA1	c.5439delT	p.Asp1813Glufs21	Frameshift	—	—	—	—	—	4	P58	54
BRCA1	c.2971_2975del AAAAC	p.Lys991	Frameshift	—	—	—	—	—	4	P85	36
BRCA1	c.2483del	p.Gly828fs	Frameshift	—	—	—	—	—	5	P107	49
BRCA2	c.3861delT	p.Asn1287LysfsX6	Frameshift	—	—	—	—		4	P4	54
ATM	c.7084G>C	p.Glu2362Gln	Missense	3.5636	0.998	D	D	D	3	P18	54
BRIP1	c.168_169insA	p.Leu57Thrfs12	Frameshift	—	—	—	—	—	4	P55	47
NBN	c.1037T>C	p.Val346Ala	Missense	-0.0005	0.643	T	B	N	3	P18	54

Variants are named according to Human Genome Variation Society (HGVS) nomenclature. SIFT score pred: D: damaging; T: tolerated; POLYPHEN score pred: B: benign; P: possibly damaging; D: probably damaging; MutationTaster score pred: D: disease causing; N: polymorphism.