ClinVar Miner

Variants with conflicting interpretations studied for PMS2-related condition

Minimum review status of the submission for PMS2-related condition: Collection method of the submission for PMS2-related condition:
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
11 36 0 14 17 0 2 29

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
PMS2-related condition pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 3 0 2 0 1
uncertain significance 0 0 0 9 1
likely benign 0 0 8 0 9
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 4
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 specified 0 21 0 9 15 0 1 23
not provided 0 38 0 8 13 0 2 22
Breast and/or ovarian cancer 0 14 0 1 2 0 1 4
Hereditary cancer 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000535.7(PMS2):c.354-34C>G rs200029834 0.00049
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478 0.00045
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00009
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522 0.00004
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.903+4T>A rs753803330 0.00003
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.23+7G>C rs878854047 0.00002
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.251-9C>G rs1064793639 0.00001
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000535.7(PMS2):c.989-8dup rs1333503820

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