Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil

BMC Cancer

Table 3 Analysis of missense variants from BRCA1/2 gene of uncertain significance using mutation function prediction models

Gene	Exon	HDVS cDNA	HGVS protein	PolyPhen	SIFT	Provean	Align GVGD	Human splice finder	ID
BRCA1	22	c.5348 T > C	p.Met1783Thr	Probably Damaging	Damaging	Neutral	Class C45	-	94
BRCA2	11	c.2350A > G	p.Met784Val	Benign	Tolerated	Neutral	Class C0	Activation of an exonic cryptic donor site / Creation of an exonic ESS site / Alteration of an exonic ESE site.	35
	11	c.3515C > T	p.Ser1172Leu	Probably Damaging	Damaging	Deleterious	Class C0	Creation of an exonic ESS site/Alteration of an exonic ESE site.	25
	15	c.7534C > T	p.Leu2512Phe	Probably Damaging	Damaging	Neutral	Class C0	Alteration of an intronic ESS site.	47
	19	c.8351G > A	p.Arg2784Gln	Probably Damaging	Damaging	Neutral	Class C35	Activation of an exonic cryptic acceptor site	111
	19	c.8351G > A	p.Arg2784Gln	Probably Damaging	Damaging	Neutral	Class C35	Presence of one or more cryptic branch point.	111

HGVS Human Genome Variation Society, PolyPhen: Variant Benign, Possibly damaging and Probably damaging; SIFT: Variant Tolerated (benign) or Damaging; Provean: Neutral or Deleterius; Align GVGD: Class C0 (Less likely to interfere in protein function), C15, C25, C35, C45, C55, C65 (More likely to interfere in protein function); ID: patient identification

ISSN: 1471-2407