ClinVar Miner

Variants with conflicting interpretations studied for Ataxia-telangiectasia-like disorder 1

Coded as:
Minimum review status of the submission for Ataxia-telangiectasia-like disorder 1: Collection method of the submission for Ataxia-telangiectasia-like disorder 1:
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
142 116 0 35 25 0 5 60

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
Ataxia-telangiectasia-like disorder 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 11 2 0 0
likely pathogenic 24 0 4 0 0
uncertain significance 0 2 0 24 5
likely benign 0 0 6 0 10
benign 0 0 3 6 0

Condition to condition summary #

Total conditions: 2
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
Ataxia-telangiectasia-like disorder 0 112 0 33 25 0 5 59
Ataxia-telangiectasia-like disorder 1 251 44 0 16 7 0 2 23

All variants with conflicting interpretations #

Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_005591.4(MRE11):c.771A>G (p.Glu257=) rs13447632 0.00301
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
NM_005591.4(MRE11):c.969A>G (p.Pro323=) rs13447633 0.00258
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00066
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) rs199634245 0.00021
NM_005591.4(MRE11):c.845+11T>C rs140145979 0.00021
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_005591.4(MRE11):c.777G>A (p.Gln259=) rs774144789 0.00006
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter) rs984874083 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_005591.4(MRE11):c.1783+7A>G rs774520952 0.00004
NM_005591.4(MRE11):c.940C>T (p.Leu314=) rs368362407 0.00004
NM_005591.4(MRE11):c.1233G>A (p.Glu411=) rs748756180 0.00002
NM_005591.4(MRE11):c.1404T>C (p.Asp468=) rs368144567 0.00002
NM_005591.4(MRE11):c.1758G>A (p.Ser586=) rs766372720 0.00002
NM_005591.4(MRE11):c.1867+2T>C rs745677716 0.00002
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_005591.4(MRE11):c.1074A>G (p.Pro358=) rs876659934 0.00001
NM_005591.4(MRE11):c.1225+10T>G rs863224734 0.00001
NM_005591.4(MRE11):c.1275A>C (p.Thr425=) rs749712745 0.00001
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter) rs780001540 0.00001
NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly) rs576878377 0.00001
NM_005591.4(MRE11):c.1783+10G>C rs864622589 0.00001
NM_005591.4(MRE11):c.20+8C>A rs766581183 0.00001
NM_005591.4(MRE11):c.2070+2T>A rs786202801 0.00001
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser) rs137852760 0.00001
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs) rs1946499901
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.1127del (p.Phe376fs)
NM_005591.4(MRE11):c.1143del (p.Phe381fs) rs863224508
NM_005591.4(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.4(MRE11):c.1441del (p.Thr481fs) rs747832587
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys) rs137852762
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)
NM_005591.4(MRE11):c.154-11C>G rs751354326
NM_005591.4(MRE11):c.1545A>G (p.Glu515=) rs886048759
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs) rs876660186
NM_005591.4(MRE11):c.1868-4C>A rs768257868
NM_005591.4(MRE11):c.1868-5T>C rs773911334
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter) rs2134840569
NM_005591.4(MRE11):c.21-6_26del rs587780138
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter) rs779269083
NM_005591.4(MRE11):c.315-4del rs35062043
NM_005591.4(MRE11):c.504_511del (p.Leu169fs) rs786202253
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter) rs1157413766
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys) rs137852763
NM_005591.4(MRE11):c.784del (p.Tyr262fs)
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898

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