ClinVar Miner

Variants with conflicting interpretations studied for BRCA2-related disorder

Coded as:
Minimum review status of the submission for BRCA2-related disorder: Collection method of the submission for BRCA2-related disorder:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
54 238 0 129 125 0 12 216

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
BRCA2-related disorder pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 8 5 0 0
likely pathogenic 6 0 5 0 0
uncertain significance 1 2 0 52 10
likely benign 0 0 62 0 100
benign 0 0 11 15 0

Condition to condition summary #

Total conditions: 7
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
not provided 0 263 0 85 89 0 9 162
not specified 0 176 0 88 58 0 3 138
Breast and/or ovarian cancer 0 89 0 11 26 0 1 37
Inherited breast cancer and ovarian cancer 0 23 0 3 1 0 2 6
Hereditary cancer 0 2 0 0 3 0 0 3
Autosomal dominant BRCA2-related cancer types 0 1 0 1 0 0 0 1
Genetic non-acquired premature ovarian failure 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 216
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00247
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00098
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00086
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00070
NM_000059.4(BRCA2):c.7007+53G>A rs56014558 0.00064
NM_000059.4(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455 0.00059
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00049
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00043
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628 0.00042
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00036
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251 0.00029
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.2208A>G (p.Ala736=) rs144984153 0.00023
NM_000059.4(BRCA2):c.2412A>G (p.Glu804=) rs587780866 0.00023
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00023
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521 0.00019
NM_000059.4(BRCA2):c.8487+8G>A rs81002838 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00018
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) rs145625991 0.00016
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00013
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00011
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00011
NM_000059.4(BRCA2):c.7278T>A (p.Ile2426=) rs372377916 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=) rs587780531 0.00010
NM_000059.4(BRCA2):c.4314C>T (p.Val1438=) rs730881590 0.00009
NM_000059.4(BRCA2):c.6475C>G (p.Gln2159Glu) rs398122558 0.00009
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys) rs431825347 0.00009
NM_000059.4(BRCA2):c.7435+23A>G rs761412178 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.2109C>T (p.Thr703=) rs762499878 0.00008
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg) rs80358566 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00007
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.1644G>A (p.Gln548=) rs55986646 0.00007
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000059.4(BRCA2):c.5529A>C (p.Ala1843=) rs372951842 0.00007
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00007
NM_000059.4(BRCA2):c.841G>A (p.Asp281Asn) rs80359088 0.00007
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00007
NM_000059.4(BRCA2):c.2025A>G (p.Thr675=) rs147381487 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.4578A>G (p.Thr1526=) rs202022822 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421 0.00006
NM_000059.4(BRCA2):c.9175A>G (p.Lys3059Glu) rs80359174 0.00006
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu) rs374191973 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00005
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195 0.00005
NM_000059.4(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229 0.00005
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.5631C>T (p.Asn1877=) rs374326934 0.00004
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803 0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382 0.00004
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129 0.00004
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237 0.00004
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00003
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457 0.00003
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg) rs587780646 0.00003
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723 0.00003
NM_000059.4(BRCA2):c.4269T>C (p.Thr1423=) rs786201377 0.00003
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr) rs80358678 0.00003
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00003
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00003
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly) rs80359041 0.00003
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val) rs80359162 0.00003
NM_000059.4(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423 0.00003
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442 0.00002
NM_000059.4(BRCA2):c.2391G>A (p.Lys797=) rs587776462 0.00002
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly) rs80358511 0.00002
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=) rs45619134 0.00002
NM_000059.4(BRCA2):c.2716A>G (p.Thr906Ala) rs80358528 0.00002
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719 0.00002
NM_000059.4(BRCA2):c.4062G>A (p.Thr1354=) rs768735660 0.00002
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00002
NM_000059.4(BRCA2):c.5660C>T (p.Thr1887Met) rs397507795 0.00002
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499 0.00002
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe) rs398122542 0.00002
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536 0.00002
NM_000059.4(BRCA2):c.7317A>G (p.Gly2439=) rs587780660 0.00002
NM_000059.4(BRCA2):c.7413A>G (p.Thr2471=) rs138067005 0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu) rs80358995 0.00002
NM_000059.4(BRCA2):c.8007A>G (p.Arg2669=) rs143999963 0.00002
NM_000059.4(BRCA2):c.9285C>T (p.Asp3095=) rs80359198 0.00002
NM_000059.4(BRCA2):c.9501+4A>G rs81002848 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144 0.00002
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.1059A>G (p.Ser353=) rs730881585 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268 0.00001
NM_000059.4(BRCA2):c.2739C>T (p.Asp913=) rs276174829 0.00001
NM_000059.4(BRCA2):c.2817C>T (p.Thr939=) rs367921107 0.00001
NM_000059.4(BRCA2):c.324T>C (p.Asn108=) rs772010158 0.00001
NM_000059.4(BRCA2):c.3672C>T (p.Gly1224=) rs587780650 0.00001
NM_000059.4(BRCA2):c.3772A>G (p.Ile1258Val) rs587782720 0.00001
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=) rs786201236 0.00001
NM_000059.4(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664 0.00001
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000059.4(BRCA2):c.7436-4A>G rs81002904 0.00001
NM_000059.4(BRCA2):c.7521A>G (p.Pro2507=) rs759383358 0.00001
NM_000059.4(BRCA2):c.7602G>A (p.Ala2534=) rs81002826 0.00001
NM_000059.4(BRCA2):c.7617+4T>C rs397507923 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.79A>G (p.Ile27Val) rs80359034 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=) rs776992904 0.00001
NM_000059.4(BRCA2):c.8298A>G (p.Thr2766=) rs730881594 0.00001
NM_000059.4(BRCA2):c.8332-6G>T rs587780872 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8352G>T (p.Arg2784=) rs747664806 0.00001
NM_000059.4(BRCA2):c.8355T>C (p.Pro2785=) rs1057524419 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=) rs80359804 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000059.4(BRCA2):c.9155G>A (p.Arg3052Gln) rs80359171 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760 0.00001
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr) rs397507435 0.00001
NM_000059.4(BRCA2):c.*8C>T rs747134610
NM_000059.4(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000059.4(BRCA2):c.1304G>A (p.Arg435Lys) rs398122725
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del) rs11571587
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.2125C>G (p.Leu709Val) rs80358489
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.2673C>T (p.Val891=)
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile) rs431825304
NM_000059.4(BRCA2):c.3344del (p.Ser1115fs) rs1135401900
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter) rs747070579
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.476-3C>T rs371431745
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser) rs80358709
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5634C>T (p.Asn1878=) rs80358784
NM_000059.4(BRCA2):c.5700A>G (p.Ser1900=) rs730881591
NM_000059.4(BRCA2):c.5733T>G (p.Asp1911Glu) rs367823201
NM_000059.4(BRCA2):c.5976A>G (p.Ser1992=) rs748854546
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs) rs886038145
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val) rs980859921
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.6871A>G (p.Asn2291Asp) rs80358911
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) rs587782715
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe) rs80359044
NM_000059.4(BRCA2):c.8118T>C (p.Asn2706=) rs758549180
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr) rs80359073
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8789A>G (p.Asn2930Ser) rs397508008
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8954-5_8954-2del rs587782878
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9256+1G>A rs81002883
NM_000059.4(BRCA2):c.9257-10dup rs276174919
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs) rs431825381

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