ClinVar Miner

Variants with conflicting interpretations studied for DICER1-related tumor predisposition

Coded as:
Minimum review status of the submission for DICER1-related tumor predisposition: Collection method of the submission for DICER1-related tumor predisposition:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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
5160 252 0 39 32 0 11 79

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
DICER1-related tumor predisposition pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 16 7 0 0
likely pathogenic 16 0 4 0 0
uncertain significance 7 4 0 31 4
likely benign 0 0 31 0 23
benign 0 0 4 23 0

Condition to condition summary #

Total conditions: 1
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
DICER1-related tumor predisposition 5160 252 0 39 32 0 11 79

All variants with conflicting interpretations #

Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.4206+9_4206+13del rs745445238 0.01449
NM_177438.3(DICER1):c.4206+11G>T rs774504706 0.00632
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=) rs139500905 0.00121
NM_177438.3(DICER1):c.4014G>A (p.Ala1338=) rs143454689 0.00099
NM_177438.3(DICER1):c.3428T>C (p.Leu1143Pro) rs139786661 0.00070
NM_177438.3(DICER1):c.3269+14G>A rs201906274 0.00040
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00025
NM_177438.3(DICER1):c.4819C>T (p.Arg1607Trp) rs189119295 0.00018
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959 0.00016
NM_177438.3(DICER1):c.4647C>T (p.His1549=) rs201415999 0.00013
NM_177438.3(DICER1):c.1543C>T (p.Leu515=) rs148218787 0.00012
NM_177438.3(DICER1):c.4804G>A (p.Ala1602Thr) rs145669719 0.00011
NM_177438.3(DICER1):c.4870G>C (p.Ala1624Pro) rs372967646 0.00011
NM_177438.3(DICER1):c.439-7A>T rs376762569 0.00010
NM_177438.3(DICER1):c.5527+7T>A rs375239471 0.00009
NM_177438.3(DICER1):c.1692G>A (p.Ala564=) rs143117334 0.00007
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr) rs200408568 0.00006
NM_177438.3(DICER1):c.2033C>T (p.Ser678Phe) rs544623004 0.00004
NM_177438.3(DICER1):c.2951A>G (p.Asn984Ser) rs750932552 0.00004
NM_177438.3(DICER1):c.77C>T (p.Pro26Leu) rs201358110 0.00004
NM_177438.3(DICER1):c.897G>A (p.Ser299=) rs201842071 0.00004
NM_177438.3(DICER1):c.2133T>C (p.His711=) rs878855248 0.00003
NM_177438.3(DICER1):c.3479C>A (p.Ser1160Tyr) rs774583162 0.00003
NM_177438.3(DICER1):c.1423A>T (p.Ser475Cys) rs1060503594 0.00002
NM_177438.3(DICER1):c.1449C>T (p.Gly483=) rs569346627 0.00002
NM_177438.3(DICER1):c.406G>C (p.Glu136Gln) rs768445477 0.00002
NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr) rs370947079 0.00002
NM_177438.3(DICER1):c.5516G>A (p.Arg1839Gln) rs587778233 0.00002
NM_177438.3(DICER1):c.773G>T (p.Gly258Val) rs188327838 0.00002
NM_177438.3(DICER1):c.1631G>A (p.Arg544Gln) rs143533680 0.00001
NM_177438.3(DICER1):c.1681A>G (p.Ile561Val) rs147493562 0.00001
NM_177438.3(DICER1):c.192A>T (p.Leu64Phe) rs1231822339 0.00001
NM_177438.3(DICER1):c.2496G>C (p.Lys832Asn) rs769292296 0.00001
NM_177438.3(DICER1):c.4189T>C (p.Trp1397Arg) rs762677393 0.00001
NM_177438.3(DICER1):c.4283T>A (p.Met1428Lys) rs996633792 0.00001
NM_177438.3(DICER1):c.4412C>T (p.Pro1471Leu) rs1060503657 0.00001
NM_177438.3(DICER1):c.4888C>T (p.Arg1630Cys) rs549532374 0.00001
NM_177438.3(DICER1):c.5010A>G (p.Glu1670=) rs886050940 0.00001
NM_177438.3(DICER1):c.5365-9C>T rs778669119 0.00001
NM_177438.3(DICER1):c.5626G>A (p.Gly1876Arg) rs770962059 0.00001
NM_177438.3(DICER1):c.742T>A (p.Ser248Thr) rs759633210 0.00001
NC_000014.9:g.95108007T>C rs1891604387
NM_177438.3(DICER1):c.1080A>G (p.Glu360=) rs886050943
NM_177438.3(DICER1):c.1089C>T (p.Phe363=) rs878855239
NM_177438.3(DICER1):c.1509+16A>G rs201947254
NM_177438.3(DICER1):c.1509G>C (p.Glu503Asp) rs1595414866
NM_177438.3(DICER1):c.1752+213A>G
NM_177438.3(DICER1):c.1802T>C (p.Ile601Thr) rs760966585
NM_177438.3(DICER1):c.1907+3A>T rs759764582
NM_177438.3(DICER1):c.2236A>G (p.Arg746Gly) rs886037686
NM_177438.3(DICER1):c.2257-2A>G rs2140034081
NM_177438.3(DICER1):c.238G>T (p.Glu80Ter) rs1595466234
NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe) rs387906934
NM_177438.3(DICER1):c.2987+1G>A rs1555370248
NM_177438.3(DICER1):c.3270-1G>C rs2139972425
NM_177438.3(DICER1):c.354T>C (p.Asp118=) rs538838304
NM_177438.3(DICER1):c.3690G>A (p.Gln1230=) rs1555369473
NM_177438.3(DICER1):c.4102dup (p.Arg1368fs) rs1890722878
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.4795C>T (p.Arg1599Trp) rs587778230
NM_177438.3(DICER1):c.4874C>A (p.Ser1625Tyr) rs864622653
NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu) rs886037724
NM_177438.3(DICER1):c.5126A>G (p.Asp1709Gly) rs1555366979
NM_177438.3(DICER1):c.5138A>T (p.Asp1713Val) rs1595331224
NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg) rs1595314951
NM_177438.3(DICER1):c.5425G>C (p.Gly1809Arg) rs1595314951
NM_177438.3(DICER1):c.5428G>T (p.Asp1810Tyr) rs775912475
NM_177438.3(DICER1):c.5438A>C (p.Glu1813Ala) rs1889806272
NM_177438.3(DICER1):c.5452G>A (p.Ala1818Thr) rs1889802883
NM_177438.3(DICER1):c.5465A>G (p.Asp1822Gly) rs886037729
NM_177438.3(DICER1):c.5465A>T (p.Asp1822Val) rs886037729
NM_177438.3(DICER1):c.5656G>A (p.Gly1886Arg) rs1566744851
NM_177438.3(DICER1):c.735-1_741delinsA rs886037731
NM_177438.3(DICER1):c.745C>T (p.Gln249Ter) rs886037732
NM_177438.3(DICER1):c.832C>T (p.Leu278Phe) rs768248216
NM_177438.3(DICER1):c.904-1G>C rs1566803555

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