|
HGVS :
Protein: DNA
|
BIC: Status
|
N° Carrier (%)
|
Co-occurrence with deleterious
|
Prediction
SIFT GVGD grade
|
refSNP
|
|---|
|
BRCA1
| | | | | | | |
|
p. Arg7Cys
|
c.19C > T
|
CU
|
2(1.1)
|
-
|
NT
|
C15
|
rs144792613
|
|
p. Cys61Gly
|
c.181 T > G
|
D
|
1 (1.1)
|
-
|
NT
|
C65
|
-
|
|
p. Arg71Gly
|
c.211A > G
|
D
|
1 (1.1)
|
-
|
NT
|
C65
|
-
|
|
p. Val122Asp
|
c.365 T > A
|
NR
|
5 (5.3)
|
BRCA2
|
T
|
C0
|
-
|
|
p. Gln139Lys
|
c.415C > A
|
NR
|
6 (6.3)
|
-
|
T
|
C0
|
-
|
|
p. Tyr179Cys
|
c.536A > G
|
CU
|
1 (1.1)
|
BRCA1[30] (AB80)
|
NT
|
C35
|
rs56187033
|
|
p. Gln356Arg
|
c.1067A > G
|
CU
|
10 (10.6)
|
BRCA1/BRCA2#
|
T
|
C0
|
rs1799950
|
|
p. Phe486Leu
|
c.1456 T > C
|
CU
|
1 (1.1)
|
BRCA1[30] (AB80)
|
T
|
C0
|
rs55906931
|
|
p. Val525Ile
|
c.1573 G > A
|
CU
|
1 (1.1)
|
-
|
T
|
C0
|
rs80357273
|
|
p. Asn550His
|
c.1648A > C
|
CU
|
1 (1.1)
|
BRCA1[30] (AB80)
|
NT
|
C0
|
rs56012641
|
|
p. Asp693Asn
|
c.2077 G > A
|
CN
|
8 (8.5)
|
BRCA1
|
T
|
C0
|
rs4986850
|
|
p. Pro871Leu
|
c.2612C > T
|
CN
|
29 (30.9)
|
BRCA1/BRCA2#
|
T
|
C0
|
rs799917
|
|
p. Lys898Glu
|
c.2692A > G
|
CU
|
1 (1.1)
|
BRCA2
|
T
|
C0
|
rs80357420
|
|
p. Met1008Ile
|
c.3024 G > A
|
CU
|
1 (1.1)
|
BRCA1[30]
|
T
|
C0
|
rs1800704
|
|
p. Glu1038Gly
|
c.3113 G > A
|
CN
|
33 (35.1)
|
BRCA1/BRCA2#
|
T
|
C0
|
rs16941
|
|
p. Ser1040Asn
|
c.3119 G > A
|
CU
|
1 (1.1)
|
BRCA1[31]
|
T
|
C0
|
rs4986852
|
|
p. Asp1131Glu
|
c.3393C > G
|
NR
|
1 (1.1)
|
BRCA2
|
T
|
C0
|
-
|
|
p. Lys1183Arg
|
c.3548A > G
|
CN
|
34 (36.2)
|
BRCA1/BRCA2#
|
T
|
C0
|
rs16942
|
|
p. Ile1275Val
|
c.3823A > G
|
CU
|
8 (8.5)
|
-
|
T
|
C0
|
rs80357280
|
|
p. Glu1586Gly
|
c.4757A > G
|
NR
|
1 (1.1)
|
-
|
NT
|
C0
|
-
|
|
p. Ser1613Gly
|
c.4837A > G
|
CN
|
33 (35.1)
|
BRCA1/BRCA#
|
T
|
C0
|
rs1799966
|
|
p. Met1652Thr
|
c.4955 T > C
|
CU
|
1 (1.1)
|
-
|
NT
|
C25
|
rs80356968
|
|
BRCA2
| | | | | | | |
|
p. Tyr42Cys
|
c.125A > G
|
CU(BIC)
|
1 (1.1)
|
-
|
T
|
C0
|
rs4987046
|
|
p. Asn289His
|
c.865A > C
|
CN
|
5 (5.3)
|
BRCA2
|
NT
|
C0
|
rs766173
|
|
p. His372Asn
|
c.1114C > A
|
CN
|
24 (4.2)
|
BRCA1/BRCA2#
|
T
|
C0
|
rs144848
|
|
p. Arg858Ile
|
c.2578 G > T
|
NR
|
1 (1.1)
|
BRCA2
|
T
|
C0
|
-
|
|
p. Asn991Asp
|
c.2971A > G
|
CN
|
4 (4.2)
|
BRCA2
|
T
|
C0
|
rs1799944
|
|
p.Q1063K
|
c.3187C > A
|
NR
|
1 (1.1)
|
-
|
T
|
C0
|
-
|
|
p. Asp1420Tyr
|
c.4258 G > A
|
CN
|
1 (1.1)
|
BRCA2[32]
|
T
|
C0
|
rs28897727
|
|
p. Met1915Thr
|
c.5744 T > C
|
CU
|
1 (1.1)
|
-
|
T
|
C0
|
rs4987117
|
|
p. Ser2098Phe
|
c.6749C > T
|
CU
|
1 (1.1)
|
-
|
T
|
C0
|
rs80358867
|
|
p. Arg2108His
|
c.6323 G > A
|
CU
|
1.(1.1)
|
-
|
T
|
C0
|
rs35029074
|
|
p. Ala2466Val
|
c.7397C > T
|
CU
|
37 (39.4)
|
BRCA1/BRCA2#
|
NT
|
C0
|
rs169547
|
|
p. Asn2486Lys
|
c.7919 T > G
|
NR
|
1(1.1)
|
-
|
T
|
C0
|
-
|
|
p. Ile2490Thr
|
c.7469 T > C
|
CU
|
6 (6.3)
|
-
|
NT
|
C0
|
rs11571707
|
|
p. Asp2723His
|
c.8167 G > C
|
CU
|
1 (1.1)
|
-
|
NT
|
C65
|
rs41293511
|
|
p. Ile3412Val
|
c.10690A > G
|
CU
|
3 (3.2)
|
-
|
T
|
C0
|
rs1801426
|
- NR, Not Reported CU, Clinically Unknown; CN, clinically not important, in Breast Information Core database (BIC), http://research.nhgri.nih.gov/bic/;
- In bold missense predict deleterious; NT, Not Tolerated; T, Tolerated; Align-GVGD grade between C0 and C65; Co-occurrence: # two or more patients.
