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LOVD - Variant listings for BRCA2

974 entries
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Pathology LR Hide Pathology LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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Product of LRs Hide Product of LRs column Descending
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11 c.4933_4935del 5161del3 - - - Parsons et al 2019 - - - 0.02 0.02 - - 1.094150976 1.024615386 - 1.121083924 -
11 c.4975T>G 5203T>G p.S1659A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.985282033 1.024615386 - 1.00953513 -
11 c.4987G>C 5215G>Y p.V1663L 0.00836072 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.374837062 1.102157073 - 0.413129319 -
11 c.5003C>G 5231C>G p.A1668G 0.041393007 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.065007283 1.024615386 - 2.115838234 -
11 c.5017A>T 5245A>T p.T1673S 0.053246842 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.625012815 1.049836689 - 2.755834762 -
11 c.5020A>G 5248A>G p.S1674G 0.005992078 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.231619437 1.275289324 - 0.295381796 -
11 c.5051C>G 5279C>G p.T1684S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.98334017 1.049836689 - 1.032346587 -
11 c.5053T>G 5281T>G p.S1685A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.541767066 1.024615386 - 0.555102871 -
11 c.5070A>C 5298A>C p.K1690N 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1 - 0.00003 0.29512 - 8.85360E-6 -
11 c.5095G>A 5323G>A p.D1699N 0.04822303 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.14560687 1.157084926 - 2.482649367 -
11 c.5098G>A 5326G>A p.G1700S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.921886748 1.075678821 - 0.991654051 -
11 c.5107G>C 5335G>C p.E1703Q - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.930596231 1.024615386 - 0.953503217 -
11 c.5113A>G 5341A>G p.I1705V 0.095678669 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 4.590754509 1.129287087 - 5.184279785 -
11 c.5117A>C 5345A>C p.N1706T 0.009899089 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.478135484 1.024615386 - 0.489904974 -
11 c.5119A>G 5347A>G p.T1707A 0.041032096 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.046231844 1.024615386 - 2.09660063 -
11 c.5167A>G 5395A>G p.T1723A 0.002365818 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.1162 - - - - 0.1162 -
11 c.5170A>G 5398A>G p.I1724V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.513724825 1.371801717 - 0.704728597 -
11 c.5171T>C 5399T>C p.I1724T 0.008293781 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.354160691 1.157084926 - 0.409793997 -
11 c.5186A>G 5414A>G p.K1729R 0.004804238 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.230861316 1.024615386 - 0.236544056 -
11 c.5191C>A 5419C>A p.H1731N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.544571047 1.049836689 - 1.621547353 -
11 c.5191C>T 5419C>T p.H1731Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.763982645 1.024615386 - 1.807403759 -
11 c.5198C>T 5426C>T p.S1733F 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1 - 0.00001 5.7544 - 5.75440E-5 -
11 c.5225A>T 5453A>T p.N1742I - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.716097704 1.191016 0.967101558 1.024615386 - 0.845128667 -
11 c.5229_5231del 5457del3 - - - Parsons et al 2019 - - - 0.02 0.02 - - 1.467331144 1.102157073 - 1.617229398 -
11 c.5249C>T 5477C>T p.S1750F - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.075678821 - 0.529213679 -
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BIC DNA change Hide BIC DNA change column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Splicing prior P Hide Splicing prior P column Descending
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Other Prior P Hide Other Prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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11 c.5272A>G 5500A>G p.N1758D - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.714957389 1.129287087 - 0.807392147 -
11 c.5278T>G
  (Reported 2 times)		 5506T>G p.S1760A 0.0121 2 - Likely not pathogenic or of little clinical significance Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1.17 0.5 - 1.0253 - 0.5998 -
11 c.5285A>C 5513A>C p.Y1762S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.109359013 1.024615386 - 1.136666312 -
11 c.5312G>A 5540G>A p.G1771D 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1 - 0.00001 0.70795 - 7.07950E-6 -
11 c.5321C>T 5549C>T p.P1774L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.874102492 1.049836689 - 0.917664865 -
11 c.5342A>G 5570A>G p.D1781G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.990367818 1.024615386 - 1.014746103 -
11 c.5365A>G 5593A>G p.K1789E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.713600174 1.049836689 - 0.749163644 -
11 c.5383A>G 5611A>G p.K1795E 0.009899089 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.478135484 1.024615386 - 0.489904974 -
11 c.5390C>G 5618C>G p.A1797G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.087580269 1.102157073 - 1.198684285 -
11 c.5405A>G 5633A>G p.Q1802R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.560574626 1.049836689 - 1.638348498 -
11 c.5411T>C 5639T>C p.V1804A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.861252833 1.024615386 - 1.907068289 -
11 c.5428G>A 5656G>A p.V1810I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.66 2.347326924 1.129287087 - 1.749531949 -
11 c.5455C>T 5683C>T p.P1819S 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.02951 - 0.00003 5.88844 - 5.21304E-6 -
11 c.5465A>T 5693A>T p.N1822I - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.7402 - - - - 0.7402 -
11 c.5471A>G 5699A>G p.N1824S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.713600174 1.024615386 - 0.731165718 -
11 c.5474C>T 5702C>T p.A1825V 0.006303866 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.296092726 1.049836689 - 0.310849007 -
11 c.5479A>G 5707A>G p.I1827V 0.003406222 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.1961 0.88 0.902210596 1.075678821 - 0.167475316 -
11 c.5492T>C 5720T>C p.I1831T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.659907463 1.075678821 - 1.785527303 -
11 c.5495C>A 5723C>A p.S1832Y 0.04870011 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.065007283 1.214750213 - 2.508468036 -
11 c.5507A>C 5735A>C p.N1836T 0.006632596 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.319307311 1.024615386 - 0.327167184 -
11 c.5552T>G 5780T>G p.I1851S 0.000590411 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.7585 0.7744 0.031811951 1.549157977 - 0.028947225 -
11 c.5554G>A 5782G>A p.V1852I 0.005157436 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.236152728 1.075678821 - 0.254024488 -
11 c.5575A>G 5803A>G p.I1859V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.70265866 1.075678821 - 0.755835039 -
11 c.5596T>C 5824T>C p.F1866L - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.5655 - - - - 1.5655 -
11 c.5602G>T 5830G>T p.D1868Y 0.005616986 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.263647687 1.049836689 - 0.276787014 -
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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11 c.5624A>C 5852A>C p.K1875T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.07 0.733500029 1.024615386 - 0.804164294 -
11 c.5632_5634del 5860del3 - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.713600174 1.024615386 - 0.731165718 -
11 c.5634C>G 5862C>G p.N1878K 0.000454879 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.468988544 0.32 0.095913941 1.549157977 - 0.022299219 -
11 c.5635G>A 5863G>A p.E1879K 0.001098962 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.030700001 0.687379642 1.460229578 1.749444114 - 0.053908379 -
11 c.5640T>G 5868T>G p.N1880K 0.002309002 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.49 0.276859348 0.83592836 - 0.113402945 -
11 c.5649A>C 5877A>C p.K1883N 0.006632596 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.319307311 1.024615386 - 0.327167184 -
11 c.5651T>C 5879T>C p.I1884T 0.007684984 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.352782342 1.075678821 - 0.379480494 -
11 c.5663A>G 5891A>G p.K1888R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.128403958 1.075678821 - 1.213800239 -
11 c.5668A>G 5896A>G p.M1890V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.713600174 1.049836689 - 0.749163644 -
11 c.5669T>C 5897T>C p.M1890T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.082639742 1.102157073 - 1.193239049 -
11 c.5677T>G 5905T>G p.C1893G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.934833699 1.024615386 - 0.957844991 -
11 c.5702A>T 5930A>T p.E1901V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.54 0.374837062 1.024615386 - 0.591458284 -
11 c.5710C>G 5938C>G p.L1904V 0.00015 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.13 0.00 0.13 0.03802 - 0.46774 0.05754 - 0.00102 -
11 c.5714A>G
  (Reported 2 times)		 5942A>G p.H1905R 0.003 2 - Likely not pathogenic or of little clinical significance Whiley PJ et al., PLoS One. 2014 Jan 28, 9(1):e86836. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.02 0.00 0.02 0.16 - - - - 0.16 -
11 c.5723T>C 5951T>C p.L1908P 0.008396438 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.385718484 1.075678821 - 0.414909205 -
11 c.5726A>G 5954A>G p.D1909G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.845804261 1.049836689 - 0.887956344 -
11 c.5729A>T 5957A>T p.N1910I 0.003935252 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.3787 0.694194 0.65207944 1.129287087 - 0.193589158 -
11 c.5737T>C 5965T>C p.C1913R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.340238153 1.157084926 - 1.550769365 -
11 c.5747A>G 5975A>G p.H1916R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.776322802 1.049836689 - 0.815012159 -
11 c.5752C>T 5980C>T p.H1918Y 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1 - 0.00501 0.05623 - 0.00028 -
11 c.5753A>G 5981A>G p.H1918R 0.000833483 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.9499756 0.043027149 - 0.040874742 -
11 c.5768A>C 5996A>C p.D1923A 0.007964212 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.241876734 1.62636286 - 0.393379337 -
11 c.5782G>A 6010G>A p.E1928K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1 1.129287087 - 1.129287087 -
11 c.5785A>G 6013A>G p.I1929V 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.05012 - 0.42658 0.01175 - 0.00025 -
11 c.5821A>C 6049A>C p.K1941Q 0.009788218 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.472727355 1.024615386 - 0.484363721 -
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Key Observational Reference Hide Key Observational Reference column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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11 c.5848G>A 6076G>A p.V1950I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.934833699 1.024615386 - 0.957844991 -
11 c.5855T>G 6083T>G p.L1952W - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.776322802 1.024615386 - 0.795432287 -
11 c.5869A>G 6097A>G p.I1957V - - Parsons et al 2019 - 0.02 - 0.02 0.3 - - 0.774041264 1.18556701 - 0.917677787 -
11 c.5879G>A 6107G>A p.C1960Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.71977202 1.306681054 - 0.940512462 -
11 c.5882G>A 6110G>A p.S1961N 0.097583803 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 1.0561 0.7314 6.377116032 1.075678821 - 5.29867077 -
11 c.5896C>T
  (Reported 2 times)		 6124C>T p.H1966Y 0.0500 3 - Uncertain Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 - 0.892 2.89 - - 2.57788 -
11 c.5897A>G 6125A>G p.H1966R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.432873622 1.371801717 - 0.593816778 -
11 c.5900A>G 6128A>G p.K1967R - - Parsons et al 2019 - 0.02 - 0.02 0.3 0.6356 - - - - 0.6356 -
11 c.5925T>G 6153T>G p.C1975W - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.563555125 1.049836689 - 0.591640847 -
11 c.5937C>G 6165C>G p.S1979R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.061452211 1.18556701 - 1.258422724 -
11 c.5962G>A 6190G>A p.V1988I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.729129755 1.024615386 - 1.77169295 -
11 c.5969A>G 6197A>G p.D1990G 0.003549177 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.17033623 1.024615386 - 0.174529122 -
11 c.5972C>T 6200C>T p.A1991V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.494226238 1.024615386 - 0.506391807 -
11 c.5975C>T 6203C>T p.S1992L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.561038753 1.049836689 - 0.588999066 -
11 c.5981A>G 6209A>G p.Q1994R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.62046407 1.024615386 - 0.635737032 -
11 c.5986G>A 6214G>A p.A1996T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.467331144 1.129287087 - 1.657038113 -
11 c.5987C>T 6215C>T p.A1996V - - Parsons et al 2019 - 0.02 - 0.02 0.3 - - 1.12602708 1.024615386 - 1.15374467 -
11 c.6014A>G 6242A>G p.D2005G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.07 0.845804261 1.024615386 - 0.927287743 -
11 c.6017G>C 6245G>C p.S2006T 0.043130578 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.95579944 1.129287087 - 2.208659052 -
11 c.6029T>G 6257T>G p.V2010G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.049836689 - 0.516499838 -
11 c.6058G>A 6286G>A p.E2020K 0.00288811 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.1762 0.9523 0.786327848 1.075678821 - 0.141927307 -
11 c.6071A>G 6299A>G p.Q2024R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.861252833 1.024615386 - 1.907068289 -
11 c.6076A>G 6304A>G p.T2026A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.318276904 1.024615386 - 1.350726798 -
11 c.6085G>A 6313G>A p.E2029K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.845804261 1.024615386 - 0.866624059 -
11 c.6100C>T 6328C>T p.R2034C 0.00000 1 - Not pathogenic or of no clinical significance Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 - 0.178 1.55 0.001 - 0.00028 -
401 - 500
[<-] 1 2 3 4 5 6 7 8 9 10 [->]

Legend: [ BRCA2 full legend ]

Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. BIC DNA change: Variation at DNA-level, BIC format Protein change: Variation at protein level. Posterior P: Posterior probability IARC Class: IARC Class Key Observational Reference: Primary reference Prior P reference: Secondary reference Missense analysis Prior P: Align-GVGD prior probability Splicing prior P: Splicing prior probability Other Prior P: Custom Priors other than missense or splice (short legend) Combined prior P: Combined prior probability Segregation LR: Segregation likelihood ratio Pathology LR: Pathology likelihood ratio Sum Family LR: Summary Family History likelihood ratio Co-occurrence LR: Co-occurrence likelihood ratio case-control LR: case-control likelihood ratios from iCOGS (short legend) Product of LRs: Product of likelihood ratios Comments: alternate references, caveats, and additional information.

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