Variants with conflicting interpretations studied for DICER1-related tumor predisposition

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: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

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
5448	281	0	63	41	0	19	118

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	38	10	0	0
	likely pathogenic	38	0	11	0	0
	uncertain significance	10	11	0	40	4
	likely benign	0	0	40	0	25
	benign	0	0	4	25	0

Condition to condition summary #

Total conditions: 1

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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	5448	281	0	63	41	0	19	118

All variants with conflicting interpretations #

Total variants: 118

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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	0.00670
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	0.00042
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg)	rs148758903	0.00027
NM_177438.3(DICER1):c.4923T>G (p.Cys1641Trp)	rs587778231	0.00019
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.439-7A>T	rs376762569	0.00010
NM_177438.3(DICER1):c.4870G>C (p.Ala1624Pro)	rs372967646	0.00010
NM_177438.3(DICER1):c.5527+7T>A	rs375239471	0.00009
NM_177438.3(DICER1):c.1692G>A (p.Ala564=)	rs143117334	0.00008
NM_177438.3(DICER1):c.2720T>C (p.Ile907Thr)	rs200408568	0.00006
NM_177438.3(DICER1):c.5276A>G (p.Lys1759Arg)	rs144259142	0.00006
NM_177438.3(DICER1):c.77C>T (p.Pro26Leu)	rs201358110	0.00006
NM_177438.3(DICER1):c.3479C>A (p.Ser1160Tyr)	rs774583162	0.00005
NM_177438.3(DICER1):c.1410G>C (p.Glu470Asp)	rs774271782	0.00004
NM_177438.3(DICER1):c.1801A>G (p.Ile601Val)	rs564224919	0.00004
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.3811C>T (p.Leu1271Phe)	rs1249975103	0.00004
NM_177438.3(DICER1):c.897G>A (p.Ser299=)	rs201842071	0.00004
NM_177438.3(DICER1):c.1583T>C (p.Ile528Thr)	rs143099538	0.00003
NM_177438.3(DICER1):c.2133T>C (p.His711=)	rs878855248	0.00003
NM_177438.3(DICER1):c.1423A>T (p.Ser475Cys)	rs1060503594	0.00002
NM_177438.3(DICER1):c.184G>A (p.Val62Ile)	rs746671039	0.00002
NM_177438.3(DICER1):c.354T>C (p.Asp118=)	rs538838304	0.00002
NM_177438.3(DICER1):c.4449G>A (p.Met1483Ile)	rs1454569806	0.00002
NM_177438.3(DICER1):c.4475T>C (p.Met1492Thr)	rs370947079	0.00002
NM_177438.3(DICER1):c.4888C>T (p.Arg1630Cys)	rs549532374	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.1080A>G (p.Glu360=)	rs886050943	0.00001
NM_177438.3(DICER1):c.1449C>T (p.Gly483=)	rs569346627	0.00001
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.1802T>C (p.Ile601Thr)	rs760966585	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.406G>C (p.Glu136Gln)	rs768445477	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.4945A>G (p.Met1649Val)	rs146715213	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.5623G>A (p.Asp1875Asn)	rs745601023	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
NM_177438.3(DICER1):c.1089C>T (p.Phe363=)	rs878855239
NM_177438.3(DICER1):c.145-4C>T	rs1595466756
NM_177438.3(DICER1):c.1509+16A>G	rs201947254
NM_177438.3(DICER1):c.1509G>C (p.Glu503Asp)	rs1595414866
NM_177438.3(DICER1):c.1598del (p.Leu533fs)	rs2543033749
NM_177438.3(DICER1):c.1752+213A>G	rs2543019173
NM_177438.3(DICER1):c.1907+3A>T	rs759764582
NM_177438.3(DICER1):c.2166T>G (p.Tyr722Ter)	rs1595391320
NM_177438.3(DICER1):c.2233C>T (p.Arg745Ter)	rs1060503584
NM_177438.3(DICER1):c.2236A>G (p.Arg746Gly)	rs886037686
NM_177438.3(DICER1):c.2256+5G>A	rs1595390864
NM_177438.3(DICER1):c.2256+5G>C	rs1595390864
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.2521C>T (p.Gln841Ter)	rs2542841694
NM_177438.3(DICER1):c.2551C>T (p.Gln851Ter)	rs2542840500
NM_177438.3(DICER1):c.2642T>C (p.Leu881Pro)	rs1595380007
NM_177438.3(DICER1):c.2650+1G>C
NM_177438.3(DICER1):c.265_266del (p.Phe89fs)	rs1894040158
NM_177438.3(DICER1):c.2698dup (p.Ile900fs)	rs2140020024
NM_177438.3(DICER1):c.2987+1G>A	rs1555370248
NM_177438.3(DICER1):c.3111_3112del (p.Ala1039fs)
NM_177438.3(DICER1):c.3151G>C (p.Ala1051Pro)	rs1595371059
NM_177438.3(DICER1):c.3269+1G>A	rs1595370466
NM_177438.3(DICER1):c.3270-1G>C	rs2139972425
NM_177438.3(DICER1):c.3279_3282del (p.Asn1093fs)	rs2542723228
NM_177438.3(DICER1):c.3304_3311delinsT (p.Ile1102fs)	rs1891190597
NM_177438.3(DICER1):c.3353dup (p.Asn1118fs)	rs2542719254
NM_177438.3(DICER1):c.3690G>A (p.Gln1230=)	rs1555369473
NM_177438.3(DICER1):c.3990T>A (p.Tyr1330Ter)
NM_177438.3(DICER1):c.4102dup (p.Arg1368fs)	rs1890722878
NM_177438.3(DICER1):c.4206+3_4206+5del	rs2542597073
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del)	rs544960260
NM_177438.3(DICER1):c.4469dup (p.Gly1490_Ser1491insTer)
NM_177438.3(DICER1):c.4638C>G (p.Tyr1546Ter)	rs773822569
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg)	rs137852976
NM_177438.3(DICER1):c.4762del (p.Gly1587_Leu1588insTer)	rs1566754840
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.5096-12G>A	rs1566750865
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.5365-4A>G	rs754838493
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>C (p.Asp1810His)	rs775912475
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.5438A>G (p.Glu1813Gly)	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.590dup (p.Ser198fs)
NM_177438.3(DICER1):c.734+3A>T	rs377208116
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
NM_177438.3(DICER1):c.936del (p.Leu313fs)

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