Project HERA

BRCA2 variants

Every BRCA2 variant the pipeline has interpreted, classified against the ClinGen expert-panel specification for the gene where one exists.

97 variants

BRCA2 variants

Newest first. Each row opens the full report, criterion by criterion.

97 shown
Variant
Protein change
Classification
BRCA2 NM_000059.4:c.8275del
NP_000050.3:p.(V2759Wfs*18)
Pathogenic
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BRCA2 NM_000059.4:c.8275del
NP_000050.3:p.(V2759Wfs*18)
VUS
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BRCA2 NM_000059.4:c.8275del
NP_000050.3:p.(V2759Wfs*18)
VUS
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BRCA2 NM_000059.4:c.10111A>G
NP_000050.3:p.(T3371A)
VUS
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BRCA2 NM_000059.4:c.1813del
NP_000050.3:p.(I605Yfs*9)
Likely Pathogenic
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BRCA2 NM_000059.4:c.3073A>G
NP_000050.3:p.(K1025E)
Likely Benign
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BRCA2 NM_000059.4:c.7617+16C>T
NP_000050.3:p.?
Likely Benign
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BRCA2 NM_000059.4:c.6748A>G
NP_000050.3:p.(T2250A)
Benign
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BRCA2 NM_000059.4:c.8537_8538del
NP_000050.3:p.(E2846Gfs*22)
Pathogenic
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BRCA2 NM_000059.4:c.6546_6574del
NP_000050.3:p.(K2182Nfs*5)
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BRCA2 NM_000059.4:c.7317A>G
NP_000050.3:p.(G2439=)
Likely Benign
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BRCA2 NM_000059.4:c.2164A>T
NP_000050.3:p.(K722*)
VUS
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BRCA2 NM_000059.4:c.2133C>T
NP_000050.3:p.(C711=)
Likely Benign
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BRCA2 NM_000059.4:c.4183G>T
NP_000050.3:p.(A1395S)
Likely Benign
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BRCA2 NM_000059.4:c.8039A>G
NP_000050.3:p.(D2680G)
Likely Benign
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BRCA2 NM_000059.4:c.3995A>G
NP_000050.3:p.(H1332R)
VUS
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BRCA2 NM_000059.4:c.5238dup
NP_000050.3:p.(N1747*)
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BRCA2 NM_000059.3:c.5218_5223del
NP_000050.2:p.(L1740_S1741del)
Benign
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BRCA2 NM_000059.3:c.1274A>G
NP_000050.2:p.(E425G)
Likely Benign
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BRCA2 NM_000059.4:c.8386C>T
NP_000050.3:p.(P2796S)
VUS
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BRCA2 NM_000059.4:c.*23A>C
NP_000050.3:p.?
VUS
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BRCA2 NM_000059.4:c.4284dup
NP_000050.3:p.(Q1429Sfs*9)
Pathogenic
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BRCA2 NM_000059.4:c.8673_8674del
NP_000050.3:p.(R2892Tfs*14)
Pathogenic
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BRCA2 NM_000059.4:c.241T>C
NP_000050.3:p.(F81L)
Likely Benign
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BRCA2 NM_000059.4:c.1501A>G
NP_000050.3:p.(I501V)
Likely Benign
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BRCA2 NM_000059.4:c.7092_7099del
NP_000050.3:p.(E2364Dfs*25)
Pathogenic
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BRCA2 NM_000059.4:c.6698C>A
NP_000050.3:p.(A2233D)
Likely Benign
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BRCA2 NM_000059.4:c.7977-15T>G
NP_000050.3:p.?
VUS
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BRCA2 NM_000059.3:c.3069_3074del
NP_000050.2:p.(N1023_I1024del)
Likely Benign
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BRCA2 NM_000059.4:c.3417G>A
NP_000050.3:p.(K1139=)
Likely Benign
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BRCA2 NM_000059.3:c.3881T>G
NP_000050.2:p.(L1294*)
Pathogenic
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BRCA2 NM_000059.4:c.8633-24T>G
NP_000050.3:p.?
VUS
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BRCA2 NM_000059.4:c.10027G>T
NP_000050.3:p.(E3343*)
VUS
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BRCA2 NM_000059.4:c.5661G>A
NP_000050.3:p.(T1887=)
Likely Benign
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BRCA2 NM_000059.4:c.6495G>A
NP_000050.3:p.(L2165=)
Likely Benign
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BRCA2 NM_000059.3:c.9117+2T>C
NP_000050.2:p.?
Likely Pathogenic
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BRCA2 NM_000059.4:c.5344C>T
NP_000050.3:p.(Q1782*)
Pathogenic
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BRCA2 NM_000059.4:c.4494T>A
NP_000050.3:p.(G1498=)
Likely Benign
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BRCA2 NM_000059.4:c.1909+11_1909+12del
NP_000050.3:p.?
Likely Benign
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BRCA2 NM_000059.4:c.750G>A
NP_000050.3:p.(V250=)
Likely Benign
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BRCA2 NM_000059.4:c.5946del
NP_000050.3:p.(S1982Rfs*22)
Pathogenic
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BRCA2 NM_000059.4:c.425G>A
NP_000050.3:p.(S142N)
VUS
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BRCA2 NM_000059.4:c.8183T>C
NP_000050.3:p.(V2728A)
Likely Benign
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BRCA2 NM_000059.4:c.2818C>T
NP_000050.3:p.(Q940*)
Pathogenic
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BRCA2 NM_000059.4:c.5350_5351del
NP_000050.3:p.(N1784Hfs*2)
Pathogenic
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BRCA2 NM_000059.4:c.9257-18C>A
NP_000050.3:p.?
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BRCA2 NM_000059.4:c.4757C>T
NP_000050.3:p.(T1586I)
VUS
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BRCA2 NM_000059.4:c.7992T>A
NP_000050.3:p.(I2664=)
Likely Benign
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BRCA2 NM_000059.4:c.1924_1925insGG
NP_000050.3:p.(S642Wfs*3)
Pathogenic
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BRCA2 NM_000059.3:c.7961T>C
NP_000050.2:p.(L2654P)
VUS
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BRCA2 NM_000059.3:c.8023A>G
NP_000050.2:p.(I2675V)
Pathogenic
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BRCA2 NM_000059.3:c.68-7del
NP_000050.2:p.?
Benign
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BRCA2 NM_000059.3:c.8242G>A
NP_000050.2:p.(G2748S)
VUS
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BRCA2 NM_000059.3:c.8009C>G
NP_000050.2:p.(S2670W)
VUS
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BRCA2 NM_000059.3:c.8149G>T
NP_000050.2:p.(A2717S)
Benign
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BRCA2 NM_000059.3:c.5946del
NP_000050.2:p.(S1982Rfs*22)
Pathogenic
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BRCA2 NM_000059.4:c.7976+24G>A
NP_000050.3:p.?
Likely Benign
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BRCA2 NM_000059.4:c.2259T>C
NP_000050.3:p.(F753=)
VUS
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BRCA2 NM_000059.3:c.8164A>G
NP_000050.2:p.(T2722A)
Likely Pathogenic
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BRCA2 NM_000059.3:c.7685T>G
NP_000050.2:p.(F2562C)
Likely Pathogenic
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BRCA2 NM_000059.3:c.8375T>C
NP_000050.2:p.(L2792P)
Likely Pathogenic
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BRCA2 NM_000059.3:c.794-2A>G
NP_000050.2:p.?
VUS
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BRCA2 NM_000059.3:c.7970A>C
NP_000050.2:p.(K2657T)
VUS
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BRCA2 NM_000059.3:c.8059G>T
NP_000050.2:p.(V2687F)
VUS
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BRCA2 NM_000059.3:c.8362T>C
NP_000050.2:p.(W2788R)
Likely Pathogenic
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BRCA2 NM_000059.3:c.6859A>T
NP_000050.2:p.(R2287*)
Likely Pathogenic
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BRCA2 NM_000059.4:c.7057G>C
NP_000050.3:p.(G2353R)
Benign
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BRCA2 NM_000059.3:c.9117G>A
NP_000050.2:p.(P3039=)
Pathogenic
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BRCA2 NM_000059.3:c.2471T>C
NP_000050.2:p.(L824S)
Likely Benign
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BRCA2 NM_000059.4:c.7673_7674del
NP_000050.3:p.(E2558Vfs*7)
Pathogenic
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BRCA2 NM_000059.4:c.2353A>G
NP_000050.3:p.(I785V)
Likely Benign
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BRCA2 NM_000059.4:c.4516T>C
NP_000050.3:p.(F1506L)
VUS
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BRCA2 NM_000059.3:c.8168A>C
NP_000050.2:p.(D2723A)
Likely Pathogenic
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BRCA2 NM_000059.3:c.9227G>T
NP_000050.2:p.(G3076V)
Likely Pathogenic
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BRCA2 NM_000059.3:c.7759C>T
NP_000050.2:p.(L2587F)
Likely Benign
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BRCA2 NM_000059.3:c.9234C>T
NP_000050.2:p.(V3078=)
Likely Benign
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BRCA2 NM_000059.3:c.7977-1G>C
NP_000050.2:p.?
Pathogenic
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BRCA2 NM_000059.4:c.682-30A>C
NP_000050.3:p.?
Benign
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BRCA2 NM_000059.4:c.2820A>G
NP_000050.3:p.(Q940=)
Likely Benign
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BRCA2 NM_000059.4:c.8168A>C
NP_000050.3:p.(D2723A)
Likely Pathogenic
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BRCA2 NM_000059.4:c.831T>G
NP_000050.3:p.(N277K)
Benign
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BRCA2 NM_000059.4:c.9976A>T
NP_000050.3:p.(K3326*)
Benign
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BRCA2 NM_000059.4:c.9227G>T
NP_000050.3:p.(G3076V)
Likely Pathogenic
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BRCA2 NM_000059.4:c.9117G>A
NP_000050.3:p.(P3039=)
VUS
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BRCA2 NM_000059.4:c.8149G>T
NP_000050.3:p.(A2717S)
Benign
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BRCA2 NM_000059.4:c.663T>G
NP_000050.3:p.(F221L)
Likely Benign
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BRCA2 NM_000059.4:c.632-3C>G
NP_000050.3:p.?
VUS
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BRCA2 NM_000059.4:c.8023A>G
NP_000050.3:p.(I2675V)
Pathogenic
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BRCA2 NM_000059.4:c.7977-1G>C
NP_000050.3:p.?
Likely Pathogenic
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BRCA2 NM_000059.4:c.9234C>T
NP_000050.3:p.(V3078=)
Likely Benign
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BRCA2 NM_000059.4:c.7879A>T
NP_000050.3:p.(I2627F)
VUS
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BRCA2 NM_000059.4:c.29_63del
NP_000050.3:p.(T10Sfs*9)
Pathogenic
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BRCA2 NM_000059.4:c.9014_9015del
NP_000050.3:p.(R3005Ifs*12)
Pathogenic
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BRCA2 NM_000059.4:c.2830A>T
NP_000050.3:p.(K944*)
Pathogenic
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BRCA2 NM_000059.4:c.3111A>G
NP_000050.3:p.(Q1037=)
Likely Benign
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BRCA2 NM_000059.4:c.4071A>C
NP_000050.3:p.(L1357=)
Benign
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BRCA2 NM_000059.4:c.341A>G
NP_000050.3:p.(H114R)
Likely Benign
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