Table 3 Comparison of PathoMAN P/LP burden versus ClinVar P/LP burden for ExAC (noTCGA) variants by cancer susceptibility genes
From: Toward automation of germline variant curation in clinical cancer genetics
Gene | ClinVar_PLP | PathoMAN_PLP | Difference |
|---|---|---|---|
BLM | 1 | 9 | 8 |
TP53 | 15 | 7 | 8 |
ATM | 80 | 74 | 6 |
BRCA2 | 101 | 96 | 5 |
BARD1 | 10 | 15 | 5 |
SDHA | 5 | 0 | 5 |
MLH1 | 6 | 11 | 5 |
EGFR | 0 | 5 | 5 |
RAD51B | 0 | 5 | 5 |
PALB2 | 21 | 26 | 5 |
RAD50 | 21 | 17 | 4 |
PMS2 | 15 | 11 | 4 |
CDH1 | 3 | 7 | 4 |
MRE11A | 11 | 7 | 4 |
EPCAM | 0 | 4 | 4 |
BRCA1 | 68 | 65 | 3 |
NF1 | 3 | 6 | 3 |
PTEN | 2 | 5 | 3 |
STK11 | 0 | 3 | 3 |
KRAS | 2 | 0 | 2 |
MUTYH | 26 | 24 | 2 |
BRIP1 | 21 | 23 | 2 |
RAD51C | 17 | 15 | 2 |
FH | 6 | 4 | 2 |
RET | 2 | 4 | 2 |
BMPR1A | 1 | 3 | 2 |
FAM175A | 1 | 0 | 1 |
RAD51 | 1 | 0 | 1 |
MSH6 | 13 | 12 | 1 |
NBN | 10 | 9 | 1 |
RAD51D | 6 | 7 | 1 |
APC | 4 | 5 | 1 |
CDKN2A | 5 | 4 | 1 |
DICER1 | 3 | 2 | 1 |
BAP1 | 0 | 1 | 1 |
