ClinVar Miner

Variants with conflicting interpretations studied for Aortic aneurysm, familial thoracic 4

Coded as:
Minimum review status of the submission for Aortic aneurysm, familial thoracic 4: Collection method of the submission for Aortic aneurysm, familial thoracic 4:
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
1680 97 0 35 73 0 2 106

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
Aortic aneurysm, familial thoracic 4 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 1 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 1 1 0 58 19
likely benign 0 0 58 0 34
benign 0 0 19 34 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
Aortic aneurysm, familial thoracic 4 1680 97 0 35 73 0 2 106

All variants with conflicting interpretations #

Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002474.3(MYH11):c.987C>T (p.Thr329=) rs4781689 0.08684
NM_002474.3(MYH11):c.792T>C (p.Tyr264=) rs34341838 0.03006
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_002474.3(MYH11):c.387A>G (p.Lys129=) rs78754138 0.01024
NM_002474.3(MYH11):c.4401C>T (p.Tyr1467=) rs8046180 0.01019
NM_017668.3(NDE1):c.*384C>T rs193005461 0.00847
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_017668.3(NDE1):c.948-3356G>A rs142108062 0.00664
NM_017668.3(NDE1):c.948-6839G>A rs183176702 0.00636
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_002474.3(MYH11):c.1419G>A (p.Gln473=) rs61734198 0.00535
NM_017668.3(NDE1):c.948-7059C>G rs148691719 0.00511
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val) rs35176378 0.00480
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173 0.00462
NM_002474.3(MYH11):c.2520+17A>G rs185697714 0.00383
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272 0.00312
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837 0.00216
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750 0.00106
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182 0.00079
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548 0.00052
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_017668.3(NDE1):c.948-6833A>G rs111858392 0.00039
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_002474.3(MYH11):c.471C>T (p.Ile157=) rs140267000 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_017668.3(NDE1):c.948-9293G>A rs374454501 0.00034
NM_002474.3(MYH11):c.2648C>T (p.Ser883Leu) rs35035518 0.00031
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239 0.00029
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_002474.3(MYH11):c.5585G>A (p.Arg1862His) rs146228576 0.00025
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_002474.3(MYH11):c.1034-12T>G rs184847335 0.00020
NM_017668.3(NDE1):c.948-5740C>T rs373378619 0.00019
NM_002474.3(MYH11):c.1212G>C (p.Gly404=) rs201198815 0.00017
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=) rs370854451 0.00016
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_002474.3(MYH11):c.1017C>T (p.Ser339=) rs112161189 0.00014
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002474.3(MYH11):c.5247G>A (p.Gln1749=) rs757501817 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_002474.3(MYH11):c.4809G>A (p.Thr1603=) rs140577744 0.00010
NM_017668.3(NDE1):c.*164A>C rs370252949 0.00010
NM_002474.3(MYH11):c.3293+6G>A rs370658839 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326 0.00008
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947 0.00008
NM_017668.3(NDE1):c.948-4052A>G rs201595239 0.00008
NM_002474.3(MYH11):c.1056G>A (p.Ser352=) rs201256839 0.00007
NM_002474.3(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103 0.00007
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_017668.3(NDE1):c.948-3126G>A rs377410503 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_002474.3(MYH11):c.708C>T (p.Asn236=) rs768328532 0.00005
NM_002474.3(MYH11):c.2860-14C>G rs371582357 0.00004
NM_002474.3(MYH11):c.5454G>A (p.Ala1818=) rs374486989 0.00004
NM_002474.3(MYH11):c.1402-14C>T rs375973110 0.00003
NM_002474.3(MYH11):c.5421C>T (p.Ala1807=) rs145857508 0.00003
NM_002474.3(MYH11):c.546C>T (p.Ala182=) rs113577450 0.00003
NM_002474.3(MYH11):c.5696A>G (p.Asn1899Ser) rs79129097 0.00003
NM_002474.3(MYH11):c.1401+10G>A rs375209947 0.00002
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467 0.00002
NM_002474.3(MYH11):c.2010C>T (p.Asn670=) rs774336703 0.00002
NM_002474.3(MYH11):c.1356T>A (p.Ala452=) rs778073237 0.00001
NM_002474.3(MYH11):c.1576-4A>G rs189193825 0.00001
NM_002474.3(MYH11):c.2997+10G>T rs886051760 0.00001
NM_002474.3(MYH11):c.3831G>A (p.Glu1277=) rs752821481 0.00001
NM_002474.3(MYH11):c.465C>T (p.Tyr155=) rs145810355 0.00001
NM_002474.3(MYH11):c.4660G>A (p.Glu1554Lys) rs372598970 0.00001
NM_002474.3(MYH11):c.4899C>T (p.Ala1633=) rs760584464 0.00001
NM_002474.3(MYH11):c.540T>C (p.Ser180=) rs182700462 0.00001
NM_002474.3(MYH11):c.720A>T (p.Ser240=) rs143160789 0.00001
NM_017668.3(NDE1):c.948-5748G>A rs574893374 0.00001
NM_001040113.2(MYH11):c.5818C>G (p.Pro1940Ala) rs200884440
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs) rs1235801428
NM_002474.3(MYH11):c.1341C>A (p.Thr447=) rs200660016
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) rs762308378
NM_002474.3(MYH11):c.3255G>A (p.Leu1085=) rs768298662
NM_002474.3(MYH11):c.3651+5T>G rs794727439
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) rs1555554139
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4821C>T (p.Asp1607=) rs749424185
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_017668.3(NDE1):c.*388del rs543763112

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