If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | total |
---|---|---|---|---|---|---|
27 | 6 | 44 | 10 | 36 | 1 | 123 |
Gene and significance breakdown #
Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | total |
---|---|---|---|---|---|---|---|
BRCA2 | 12 | 2 | 1 | 1 | 3 | 1 | 20 |
BRCA1 | 6 | 1 | 2 | 0 | 4 | 0 | 13 |
PALB2 | 2 | 0 | 3 | 0 | 2 | 0 | 7 |
CHEK2 | 1 | 3 | 2 | 1 | 0 | 0 | 6 |
SLX4 | 0 | 0 | 4 | 0 | 1 | 0 | 5 |
ATM | 0 | 0 | 3 | 0 | 1 | 0 | 4 |
ATR | 0 | 0 | 2 | 1 | 0 | 0 | 3 |
BRCA1, LOC126862571 | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
MC1R | 0 | 0 | 1 | 1 | 1 | 0 | 3 |
MLH1 | 0 | 0 | 1 | 0 | 2 | 0 | 3 |
MUTYH | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
ATM, C11orf65 | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
AXIN2 | 0 | 0 | 1 | 0 | 1 | 0 | 2 |
BRIP1 | 1 | 0 | 0 | 0 | 1 | 0 | 2 |
FANCB | 0 | 0 | 1 | 0 | 1 | 0 | 2 |
KIF1B | 0 | 0 | 0 | 2 | 0 | 0 | 2 |
MSH6 | 0 | 0 | 1 | 0 | 1 | 0 | 2 |
RECQL4 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
RET | 0 | 0 | 1 | 0 | 1 | 0 | 2 |
SDHB | 0 | 0 | 1 | 0 | 1 | 0 | 2 |
SMARCA4 | 0 | 0 | 1 | 0 | 1 | 0 | 2 |
TSC1 | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
WRAP53 | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
BARD1 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
BRCA1, LOC111589215 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
CASR | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
DICER1 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
EXT1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
FANCA | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
FANCD2, LOC107303338 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
FANCE | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
FANCF | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
FANCI | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
FH | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
LOC106736614, RET | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
MLH3 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
MSH2 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
NBN | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
NF2 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
POLD1 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
POLE | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
POLH, POLR1C | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
PRKDC | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
SDHC | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
STK11 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
TERT | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
TINF2 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
TSHR | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
TYR | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
WRN | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
XRCC2 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
ZEB2 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Condition and significance breakdown #
Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | risk factor | total |
---|---|---|---|---|---|---|---|
Malignant tumor of breast | 1 | 0 | 24 | 10 | 36 | 0 | 71 |
Familial cancer of breast | 15 | 3 | 6 | 0 | 0 | 1 | 25 |
Hereditary cancer-predisposing syndrome | 1 | 0 | 6 | 0 | 0 | 0 | 7 |
bilateral breast cancer | 2 | 0 | 5 | 0 | 0 | 0 | 7 |
Hereditary breast cancer | 0 | 2 | 3 | 0 | 0 | 0 | 5 |
Hereditary breast ovarian cancer syndrome | 4 | 1 | 0 | 0 | 0 | 0 | 5 |
Breast-ovarian cancer, familial, susceptibility to, 2 | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
Breast-ovarian cancer, familial, susceptibility to, 1 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Familial breast and ovarian cancer | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
Mowat-Wilson syndrome | 1 | 0 | 0 | 0 | 0 | 0 | 1 |