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LOVD - Variant listings for BRCA1

662 entries
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Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
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Protein change Hide Protein change column Descending
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Posterior P Hide Posterior P column Descending
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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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Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
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Comments Hide Comments column Descending
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DB-ID Hide DB-ID column Descending
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11 c.1567T>G 1686T>G p.L523V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.036975239 1.033092037 - 1.071290862 - BRCA1_00245
11 c.1571C>T 1690C>T p.A524G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.713611535 1.067279157 - 0.761622718 - BRCA1_00600
11 c.1601A>G 1720A>G p.Q534R 0.005311302 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.237297322 1.102597599 - 0.261643458 - BRCA1_00605
11 c.1616C>T 1735C>T p.T539M 0.000272547 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.05402426 0.3476 0.450962699 1.577415842 - 0.01335843 - BRCA1_00248
11 c.1642A>G 1761A>G p.I548V 0.051954465 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.599266094 1.033092037 - 2.685281104 - BRCA1_00249
11 c.1648A>C 1767A>C p.N550H 0.00000 1 - Not pathogenic or of no clinical significance Spurdle et al. 2008 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 0.0007 0.143 - 0.0000008 - 8.00800E-11 - BRCA1_00033
11 c.1703C>G 1822C>G p.P568R 0.001752635 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.21 0.383841549 1.067279157 - 0.086029878 - BRCA1_00250
11 c.1703C>T 1822C>T p.P568L 8.19421E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0395 0.01539 0.418721101 1.577415842 - 0.00040152 - BRCA1_00251
11 c.1733C>A 1852C>A p.S578Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.700020165 1.033092037 - 0.723185258 - BRCA1_00254
11 c.1745C>T 1864C>T p.T582M - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.779710926 1.033092037 - 0.805513149 - BRCA1_00255
11 c.1756C>T 1875C>T p.P586S 0.004739851 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.225883846 1.033092037 - 0.233358803 - BRCA1_00256
11 c.1766G>T 1885G>T p.S589I 0.050387597 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - 2.6 - - - 2.6 - BRCA1_00257
11 c.1768A>G 1887A>G p.S590G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.537780316 1.033092037 - 1.5886686 - BRCA1_00258
11 c.1772T>C 1891T>C p.I591T 0.002868568 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.123752175 1.1390848 - 0.140964222 - BRCA1_00259
11 c.1786C>G 1905C>G p.L596V - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.9986 0.4 1.27958483 1.033092037 - 0.528031279 - BRCA1_00260
11 c.1789G>A 1908G>A p.E597K 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1 - 2.82E-07 0.01202 - 3.38964E-9 - BRCA1_00064
11 c.1824_1826del 1943del3 p.K608del - - Parsons et al 2019 - - - 0.02 0.02 1.9083 0.4 1.064966292 1.033092037 - 0.83981092 - BRCA1_00262
11 c.1834A>G 1953A>G p.R612G 0.000492152 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.34 0.066489318 1.067279157 - 0.024127306 - BRCA1_00263
11 c.1846_1848del 1965del3 p.S616del 5.40107E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.00112896 1.730290135 0.135481723 - 0.000264654 - BRCA1_00264
11 c.1865C>G 1984C>G p.A622G 0.070587835 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 3.602289204 1.033092037 - 3.721496293 - BRCA1_00265
11 c.1865C>T 1984C>T p.A622V 0.00002 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1 - 0.00037 2.82 - 0.00104 - BRCA1_00065
11 c.1879G>A 1998G>A p.V627I 0.004336792 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.193568727 1.102597599 - 0.213428413 - BRCA1_00266
11 c.1897C>T 2016C>T p.P633S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.458278208 1.102597599 - 0.505296452 - BRCA1_00267
11 c.1903A>G 2022A>G p.N635D 0.007934592 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.379351112 1.033092037 - 0.391904613 - BRCA1_00268
11 c.1912G>A 2031G>A p.E638K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.779710926 1.033092037 - 0.805513149 - BRCA1_00270
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
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case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
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Comments Hide Comments column Descending
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DB-ID Hide DB-ID column Descending
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11 c.1924G>C 2043G>C p.D642H 0.00001 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 0.00324 - 0.178 1.17 - 0.00067 - BRCA1_00066
11 c.1927A>G 2046A>G p.S643G 0.000549605 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0625 - 0.417317436 1.033092037 - 0.026945458 - BRCA1_00630
11 c.1960A>C
  (Reported 2 times)		 2079A>C p.K654Q 0.00686 2 - Likely not pathogenic or of little clinical significance Osorio et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - 0.9675 0.35 - - 0.33863 - BRCA1_00106
11 c.1984_1992del 2103del9 p.H662_R664del 0.060582822 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - 3.16 - - - 3.16 - BRCA1_00275
11 c.1995C>A 2114C>A p.N665K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.844299087 1.033092037 - 1.905330701 - BRCA1_00276
11 c.2002C>T 2121C>T p.L668F 0.00019 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1.26 - 0.00141 5.37 - 0.00954 - BRCA1_00067
11 c.2006T>C 2125T>C p.M669T 0.001931494 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.083247838 1.1390848 - 0.094826347 - BRCA1_00280
11 c.2014A>G 2133A>G p.K672E 0.008097166 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.4 - - - 0.4 - BRCA1_00281
11 c.2042G>T 2161G>T p.S681I 0.008027761 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.383841549 1.033092037 - 0.396543648 - BRCA1_00283
11 c.2050C>T 2169C>T p.P684S 0.001493907 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.066489318 1.102597599 - 0.073310963 - BRCA1_00284
11 c.2060A>C 2179A>C p.Q687P 0.00672794 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.31097962 1.067279157 - 0.331902067 - BRCA1_00285
11 c.2077G>A 2196G>A p.D693N 0.00000 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - - 1.00000E-10 - 1.00000E-10 - BRCA1_00004
11 c.2082C>A 2201C>A p.S694R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.779710926 1.067279157 - 0.83216922 - BRCA1_00286
11 c.2083G>T 2202G>T p.D695N 0.000263283 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.009626799 1.340451569 - 0.012904257 - BRCA1_00631
11 c.2091C>A 2210C>A p.F697L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.872390494 1.033092037 - 0.901259673 - BRCA1_00287
11 c.2123C>A 2242C>A p.S708Y 0.07073772 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - 3.73 - - - 3.73 - BRCA1_00292
11 c.2146A>G 2265A>G p.S716G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.914806725 1.033092037 - 0.945079543 - BRCA1_00295
11 c.2167A>G 2286A>G p.N723D 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1 - 13.48963 1.15E-09 - 1.55131E-8 - BRCA1_00068
11 c.2180C>T 2299C>T p.P727L 0.000166584 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0628 0.13 - - - 0.008164 - BRCA1_00297
11 c.2183G>A 2302G>A p.R728K 0.002680254 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.127467244 1.033092037 - 0.131685395 - BRCA1_00298
11 c.2207A>C
  (Reported 2 times)		 2326A>C p.E736A 0.00962 2 - Likely not pathogenic or of little clinical significance Spearman et al. 2008 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - 0.14 3.4 - - 0.476 - BRCA1_00100
11 c.2222C>G 2341C>G p.S741C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.687900947 1.033092037 - 1.743757028 - BRCA1_00300
11 c.2245G>C 2364G>C p.D749H - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.9472 - - - - 0.9472 - BRCA1_00301
11 c.2245G>T 2364G>T p.D749Y 0.00845048 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.404225807 1.033092037 - 0.417602463 - BRCA1_00302
11 c.2246A>T 2365A>T p.D749V 0.081824469 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 4.091433851 1.067279157 - 4.366702073 - BRCA1_00303
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
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DB-ID Hide DB-ID column Descending
Ascending
11 c.2252T>C 2371T>C p.M751T 0.060913139 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.79026366 1.1390848 - 3.178346922 - BRCA1_00304
11 c.2286A>T 2405A>T p.R762S 0.00990099 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.49 - - - 0.49 - BRCA1_00305
11 c.2294A>G 2413A>G p.E765G 0.063045324 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 3.191474402 1.033092037 - 3.297086792 - BRCA1_00306
11 c.2296A>G 2415A>G p.S766G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.348244307 1.067279157 - 1.438953048 - BRCA1_00307
11 c.2315T>C 2434T>C p.V772A 0.00000 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - - 9.40E-06 - 9.40000E-6 - BRCA1_00024
11 c.2338C>A 2457C>A p.Q780K 0.008689579 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.415763269 1.033092037 - 0.429521722 - BRCA1_00310
11 c.2338C>G 2457C>G p.Q780E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.766074153 1.067279157 - 0.817614976 - BRCA1_00311
11 c.2346T>A 2465T>A p.S782R 0.005752409 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.274417782 1.033092037 - 0.283498825 - BRCA1_00312
11 c.2351C>T 2470C>T p.S784L 7.10578E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.5224 0.044 0.102497783 1.477978681 - 0.003482078 - BRCA1_00313
11 c.2368A>G 2487A>G p.T790A 0.0085435 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.38 0.638868365 1.739254919 - 0.42223888 - BRCA1_00314
11 c.2397T>A 2516T>A p.N799K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.2856 2.440213563 1.297514181 - 0.904270062 - BRCA1_00315
11 c.2412G>C 2531G>C p.Q804H 0.00045 1 - Not pathogenic or of no clinical significance Chenevix-Trench et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1.12 0.0087 - 2.244 - 0.02187 - BRCA1_00027
11 c.2416G>A 2535G>A p.A806T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.779710926 1.176779436 - 0.917547784 - BRCA1_00316
11 c.2428A>T 2547A>T p.N810Y 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 0.0575 - 0.0038 5.25E-08 - 1.14713E-11 - BRCA1_00069
11 c.2447A>G 2566A>G p.H816R 0.002388664 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.074377831 1.577415842 - 0.117324769 - BRCA1_00317
11 c.2452T>G 2571T>G p.C818G 0.009418329 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.450962699 1.033092037 - 0.465885974 - BRCA1_00318
11 c.2458A>G 2577A>G p.K820E 0.00000 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - - <1e-10 - <1e-10 - BRCA1_00005
11 c.2473G>T 2592G>T p.D825Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.19292906 1.297514181 - 1.547842373 - BRCA1_00319
11 c.2477C>A 2596C>A p.T826K 0.00000 1 - Not pathogenic or of no clinical significance Spurdle et al. 2008 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 0.4985 1 - 0.0000002 - 9.97000E-8 - BRCA1_00034
11 c.2482G>A 2601G>A p.G828S 0.001157899 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.051517266 1.102597599 - 0.056802814 - BRCA1_00320
11 c.2503C>T 2622C>T p.H835D 0.006338851 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.274417782 1.1390848 - 0.312585124 - BRCA1_00641
11 c.2518A>T 2637A>T p.S840C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 4.13 0.452648414 1.067279157 - 1.995212162 - BRCA1_00322
11 c.2521C>T 2640C>T p.R841W 0.00000 1 - Not pathogenic or of no clinical significance Goldgar et al. 2004 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 4.00E-09 - - 0.028 - 1.12000E-10 - BRCA1_00003
11 c.2522G>A 2641G>A p.R841Q 0.002653803 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.5054 3.547345256 0.043197225 1.68354305 - 0.13038234 - BRCA1_00643
11 c.2525A>G 2644A>G p.E842G 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1 - 0.0603 0.00347 - 0.00021 - BRCA1_00070
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
11 c.2564A>C 2683A>C p.Q855P 0.008496979 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 1.0498 0.4 - - - 0.41992 - BRCA1_00324
11 c.2566T>C 2685T>C p.Y856H 0.00018 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - - 8.80E-03 - 0.0088 - BRCA1_00006
11 c.2584A>G 2703A>G p.K862E 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 0.269 - 0.00117 1.55 - 0.00049 - BRCA1_00071
11 c.2590T>G 2709T>G p.S864A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.537367872 1.033092037 - 0.555150469 - BRCA1_00325
11 c.2591C>T 2710C>T p.S864L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.638868365 1.033092037 - 0.660009821 - BRCA1_00326
11 c.2596C>T 2715C>T p.R866C 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 0.00234 - 2.00E-08 0.0174 - 8.14320E-13 - BRCA1_00072
11 c.2597G>A 2716G>A p.R866H 0.000573601 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.023897916 1.176779436 - 0.028122576 - BRCA1_00645
11 c.2612C>A 2731C>A p.P871Q - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.537367872 1.067279157 - 0.573521529 - BRCA1_00329
11 c.2612C>G 2731C>G p.P871R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.818002292 1.102597599 - 0.901927364 - BRCA1_00330
11 c.2612C>T 2731C>T p.P871L 0.00000 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.02 0.00 0.02 - - - <1e-10 - <1e-10 - BRCA1_00007
11 c.2650A>G 2769A>G p.T884A 0.001399866 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.066489318 1.033092037 - 0.068689585 - BRCA1_00331
11 c.2662C>T 2781C>T p.H888Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 25.61114357 0.06100482 1.176779436 - 1.838603965 - BRCA1_00332
11 c.2668G>C 2787G>C p.G890R 0.005555245 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.24825704 1.102597599 - 0.273727617 - BRCA1_00333
11 c.2669G>T 2788G>T p.G890V 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.02 0.00 0.02 1 - 0.00014 1.45 - 0.0002 - BRCA1_00073
11 c.2677A>C 2796A>C p.K893Q - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.822177029 1.033092037 - 0.849384542 - BRCA1_00334
11 c.2692A>G 2811A>G p.K898E 0.002267439 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.107790014 1.033092037 - 0.111357005 - BRCA1_00336
11 c.2726A>T 2845A>T p.N909I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.700020165 1.176779436 - 0.823769335 - BRCA1_00337
11 c.2728C>G 2847C>G p.Q910E 0.002342184 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.111351606 1.033092037 - 0.115036457 - BRCA1_00338
11 c.2758G>A 2877G>A p.V920I 0.000285122 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.1637 - 0.070221117 1.215721465 - 0.013974958 - BRCA1_00339
11 c.2759T>C 2878T>C p.V920A 0.000 1 - Not pathogenic or of no clinical significance Whiley et al., 2014 Tavtigian et al. 2008 0.02 0.02 0.00 0.02 2.00E-03 - - - - 2.00E-03 - BRCA1_00035
11 c.2765C>G 2884C>G p.T922R 0.005694054 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.9 0.29213061 1.067279157 - 0.28060642 - BRCA1_00340
11 c.2770A>G 2889A>G p.N924D 0.00990099 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.49 - - - 0.49 - BRCA1_00341
11 c.2773A>C 2892A>C p.I925L 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1 - 0.0389 0.00407 - 0.00016 - BRCA1_00074
11 c.2783G>A 2902G>A p.G928D 0.002419504 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.111351606 1.067279157 - 0.118843248 - BRCA1_00649
11 c.2789C>T 2908C>T p.P930L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.601872138 1.033092037 - 0.621789314 - BRCA1_00343
201 - 300
[<-] 1 2 3 4 5 6 7 [->]

Legend: [ BRCA1 full legend ]

Exon: Standard BRCA1 (or BRCA2) exon numbering. DNA change: Sequence variant name in HGVS cDNA sequence based nomenclature. BIC DNA change: Sequence variant name in older BIC nomenclature. Protein change: Sequence variant name in HGVS protein amino acid sequence based nomenclature. Posterior P: Posterior probability in favor of pathogenicity. IARC Class: Qualitative classification in the 5-grade IARC classification scheme. Key Observational Reference: Key Observational Reference Prior P reference: Literature source of the sequence analysis based prior probability in favor of pathogenicity used in the integrated evaluation displayed here. Missense analysis Prior P: This prior probability estimate combines position in the protein with an Align-GVGD based evaluation of missense substitutions that fall in the protein's key functional domains. Splicing prior P: This prior probability estimate evaluates the sequence variant's probability to damage a splice donor, damage a splice acceptor, or create a de novo splice donor. Other Prior P: Custom Priors other than missense or splice (short legend) Combined prior P: The combined prior probability in favor of pathogenicity. is a combination of the missense analysis prior probability and the splicing analysis prior probability. Generally, it is the higher of the two sequence analysis-based prior probabilities. Segregation LR: The likelihood ratio based on segregation analysis. Pathology LR: The likelihood ratio based on tumor pathology and/ or tumor immunohistochemistry. Sum Family LR: The likelihood ratio based on an analysis of the severity of summary family histories of breast and/ or ovarian cancer. Co-occurrence LR: The likelihood ratio based on the frequency of co-occurrence between the variant of interest and clearly pathogenic variants in the same gene. case-control LR: case-control likelihood ratios from iCOGS (short legend) Product of LRs: The product of all of the likelihood ratios Comments: alternate references, caveats, and additional information. BRCA1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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