Variant
|
Type
|
Evidence of pathogenicity
|
Count
|
---|
BRCA1
|
Q563X *
|
Nonsense
|
BIC, ClinVar
|
8
|
W1782X
|
Nonsense
|
BIC, ClinVar
|
2
|
Y1563X
|
Nonsense
|
BIC, ClinVar
|
1
|
Q538X
|
Nonsense
|
BIC, ClinVar
|
1
|
E1415X
|
Nonsense
| |
1
|
C1501X
|
Nonsense
| |
1
|
R1699W
|
Missense
|
BIC, ClinVar
|
2
|
BRCA2
|
Q92X
|
Nonsense
|
BIC, ClinVar
|
1
|
c.9118-2A > G
|
IVS
|
BIC, ClinVar
|
3
|
P3039P
|
Splice
|
BIC, ClinVar
|
1
|
Q3047X
|
Nonsense
| |
1
|
N3124I
|
Missense
|
ClinVar, Condel
|
6
|
I2627F
|
Missense
|
ClinVar, Condel
|
1
|
c.8754 + 5G > T
|
IVS
|
ClinVar
|
2
|
- * Patients with ovarian and breast cancer.
- IVS intronic variant near splice site; Splice variant in the splice region of exon.