Project HERA

BRCA2 variants

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

116 variants page 1 of 2

BRCA2 variants

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

100 shown
Variant
Protein change
Classification
BRCA2 NM_000059.4:c.9257G>C
NP_000050.3:p.(G3086A)
Likely Benign
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BRCA2 NM_000059.4:c.8107dup
NP_000050.3:p.(T2703Nfs*3)
Pathogenic
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BRCA2 NM_000059.4:c.9396A>G
NP_000050.3:p.(K3132=)
Likely Benign
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BRCA2 NM_000059.4:c.6698C>T
NP_000050.3:p.(A2233V)
VUS
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BRCA2 NM_000059.4:c.7484T>C
NP_000050.3:p.(I2495T)
Likely Benign
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BRCA2 NM_000059.4:c.6444T>C
NP_000050.3:p.(S2148=)
Likely Benign
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BRCA2 NM_000059.4:c.5857G>T
NP_000050.3:p.(E1953*)
Pathogenic
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BRCA2 NM_000059.4:c.3270G>C
NP_000050.3:p.(M1090I)
Likely Benign
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BRCA2 NM_000059.4:c.8432A>G
NP_000050.3:p.(D2811G)
Likely Benign
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BRCA2 NM_000059.4:c.9738C>T
NP_000050.3:p.(A3246=)
Benign
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BRCA2 NM_000059.4:c.7908T>A
NP_000050.3:p.(C2636*)
Pathogenic
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BRCA2 NM_000059.4:c.9934A>G
NP_000050.3:p.(I3312V)
Likely Benign
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BRCA2 NM_000059.4:c.1167G>A
NP_000050.3:p.(P389=)
Likely Benign
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BRCA2 NM_000059.4:c.3941A>G
NP_000050.3:p.(K1314R)
VUS
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BRCA2 NM_000059.4:c.3941A>G
NP_000050.3:p.(K1314R)
Likely Benign
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BRCA2 NM_000059.4:c.7141_7147dup
NP_000050.3:p.(Y2383Sfs*11)
Pathogenic
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BRCA2
—
Pathogenic
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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)
Pathogenic
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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)
Not classified
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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*)
Not classified
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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.?
Not classified
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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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