ClinVar Miner

Variants with conflicting interpretations studied for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome

Coded as:
Minimum review status of the submission for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome: Y axis collection method of the submission for DICER1-related pleuropulmonary blastoma cancer predisposition syndrome:
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 Variants with at least 2 submissions 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 kind of conflict
827 213 0 8 19 0 2 28

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 pleuropulmonary blastoma cancer predisposition syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 2 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 18 0
likely benign 0 0 1 0 2

Condition to condition summary #

Total conditions: 6
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Hereditary cancer-predisposing syndrome 0 194 0 1 10 0 0 11
not provided 0 29 0 7 2 0 2 10
Pleuropulmonary blastoma 0 11 0 0 6 0 0 6
Anophthalmia - microphthalmia 0 0 0 0 1 0 0 1
Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; Rhabdomyosarcoma, embryonal, 2; DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 0 10 0 1 0 0 0 1
not specified 0 16 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_001195573.1(DICER1):c.5365-142del rs1555366197
NM_030621.4(DICER1):c.1029dup (p.Phe344fs) rs1555374772
NM_030621.4(DICER1):c.238G>T (p.Glu80Ter)
NM_030621.4(DICER1):c.3957C>T (p.Gly1319=) rs747021489
NM_030621.4(DICER1):c.3957dup (p.Asp1320fs) rs1566766788
NM_030621.4(DICER1):c.4401_4402CT[2] (p.Leu1469fs) rs1064795904
NM_030621.4(DICER1):c.4458dup (p.Ser1487fs) rs1131691197
NM_030621.4(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg) rs148758903
NM_177438.2(DICER1):c.1449C>T (p.Gly483=) rs569346627
NM_177438.2(DICER1):c.1681A>G (p.Ile561Val) rs147493562
NM_177438.2(DICER1):c.1692G>A (p.Ala564=) rs143117334
NM_177438.2(DICER1):c.1801A>G (p.Ile601Val) rs564224919
NM_177438.2(DICER1):c.1813A>G (p.Met605Val) rs759958601
NM_177438.2(DICER1):c.20A>G (p.Gln7Arg) rs117358479
NM_177438.2(DICER1):c.2118C>T (p.Gly706=) rs191755360
NM_177438.2(DICER1):c.2191G>A (p.Glu731Lys) rs869025262
NM_177438.2(DICER1):c.3237C>T (p.Gly1079=) rs764827361
NM_177438.2(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959
NM_177438.2(DICER1):c.3674A>G (p.Tyr1225Cys) rs146584765
NM_177438.2(DICER1):c.3987A>G (p.Thr1329=) rs373810197
NM_177438.2(DICER1):c.4206+1G>T rs765059994
NM_177438.2(DICER1):c.4207-3C>T rs376041812
NM_177438.2(DICER1):c.4263T>G (p.Asp1421Glu) rs1219156713
NM_177438.2(DICER1):c.4802A>T (p.Lys1601Met) rs181018393
NM_177438.2(DICER1):c.4819C>T (p.Arg1607Trp) rs189119295
NM_177438.2(DICER1):c.773G>T (p.Gly258Val) rs188327838
NM_177438.2(DICER1):c.99A>G (p.Gln33=) rs773456851

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