Table 3.
Gene | Variation | BIC database Clinically Importance/ Clinical Classification | COSMIC | Leiden Open Variation Database (LOVD) | BRCA Exchange |
---|---|---|---|---|---|
BRCA1 | c.G131T p.C44F | unknown/ pending | Not found | Affects function | Not found |
c.A536G p.Y179C | unknown/ pending | Not found | Does not affect function | Benign | |
c.C4327T p.R1443* | yes/ class 5 | Neutral | Affects function | Not found | |
c.A1067G p.Q356R | unknown/ pending | Pathogenic | Does not affect function | Benign | |
c.5090_5093delGTTA p.L1697fs | Not found | Not found | Not found | Not found | |
BRCA2 | c.C65T p.A22V | unknown/pending | Not found | Effect unknown | Not found |
c.G223C p.A75P | unknown/ pending | Not found | Does not affect function | Benign | |
c.658_659delGT p.V220I* | yes/ class 5 | Not found | Affects function | Not found | |
c.C4061T p.T1354M | unknown/ pending | Neutral | Does not affect function | Benign | |
c.G4258T p.D1420Y | no/ pending | Neutral | Does not affect function | Benign | |
c.C5744T p.T1915M | no/ class 1 | Neutral | Does not affect function | Not found | |
c.G8775C p.Q2925H | unknown/ pending | Not found | Effect unknown | Not found | |
c.A1114C p.N372H | no/ class 1 | Neutral | Not found | Benign | |
c.C1151T p.S384F | no/ pending | Not found | Not found | Benign |
Descriptions of the classes in the BIC database:
Class 1: Not pathogenic/low clinical significance: There is significant evidence against this variant being a dominant high-risk pathogenic mutation
Class 5: Pathogenic: There is significant evidence to suggest that this variant is a dominant high-risk pathogenic mutation