Variants with conflicting interpretations studied for Aortic aneurysm, familial thoracic 7

Minimum review status of the submission for Aortic aneurysm, familial thoracic 7:		Collection method of the submission for Aortic aneurysm, familial thoracic 7:
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)
		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
1453	78	0	20	58	0	5	82

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 7		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	0	0	1	0
	likely pathogenic	0	0	3	1	1
	uncertain significance	0	3	0	48	10
	likely benign	1	1	48	0	20
	benign	0	1	10	20	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 7	1453	78	0	20	58	0	5	82

All variants with conflicting interpretations #

Total variants: 82

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_053025.4(MYLK):c.4620-12G>A	rs41301337	0.03066
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)	rs35156360	0.01032
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr)	rs142835596	0.00637
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu)	rs9844788	0.00558
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)	rs56056823	0.00499
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln)	rs41366751	0.00406
NM_053025.4(MYLK):c.422+14G>C	rs146112057	0.00400
NM_053025.4(MYLK):c.984G>A (p.Ser328=)	rs115018449	0.00277
NM_053025.4(MYLK):c.755-12C>T	rs138877679	0.00212
NM_053025.4(MYLK):c.4620-6C>T	rs113607507	0.00195
NM_053025.4(MYLK):c.399G>T (p.Gln133His)	rs140148380	0.00167
NM_053025.4(MYLK):c.4289-4C>G	rs376670657	0.00156
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)	rs35912339	0.00106
NM_053025.4(MYLK):c.3832-6C>T	rs185681684	0.00088
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr)	rs149530842	0.00055
NM_053025.4(MYLK):c.999G>A (p.Pro333=)	rs13319347	0.00045
NM_053025.4(MYLK):c.4195G>A (p.Glu1399Lys)	rs181663420	0.00042
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp)	rs368822172	0.00032
NM_053025.4(MYLK):c.5448C>T (p.Arg1816=)	rs56262958	0.00032
NM_053025.4(MYLK):c.5114+8G>A	rs202229368	0.00028
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile)	rs199988497	0.00026
NM_053025.4(MYLK):c.2253C>T (p.Thr751=)	rs138777049	0.00025
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)	rs147187907	0.00022
NM_053025.4(MYLK):c.842A>G (p.Lys281Arg)	rs147770839	0.00022
NM_053025.4(MYLK):c.455G>A (p.Arg152His)	rs201754358	0.00020
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln)	rs138265409	0.00019
NM_053025.4(MYLK):c.2693G>A (p.Arg898Gln)	rs145507832	0.00017
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)	rs370153686	0.00016
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)	rs147008323	0.00015
NM_053025.4(MYLK):c.207C>T (p.Asn69=)	rs376457425	0.00014
NM_053025.4(MYLK):c.2919G>A (p.Pro973=)	rs149482336	0.00014
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=)	rs146320279	0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=)	rs371602931	0.00014
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys)	rs146682969	0.00012
NM_053025.4(MYLK):c.1133G>A (p.Arg378His)	rs56378658	0.00010
NM_053025.4(MYLK):c.2799G>A (p.Val933=)	rs144806671	0.00010
NM_053025.4(MYLK):c.4882G>A (p.Val1628Met)	rs76655666	0.00010
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=)	rs374665486	0.00009
NM_053025.4(MYLK):c.1212C>A (p.Pro404=)	rs765597431	0.00008
NM_053025.4(MYLK):c.3897C>T (p.Ala1299=)	rs553472487	0.00008
NM_053025.4(MYLK):c.1651+7T>C	rs758327487	0.00007
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg)	rs201615936	0.00007
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr)	rs147840022	0.00007
NM_053025.4(MYLK):c.601C>T (p.Leu201=)	rs773082759	0.00007
NM_053025.4(MYLK):c.1752A>G (p.Leu584=)	rs775877814	0.00006
NM_053025.4(MYLK):c.2049G>A (p.Gln683=)	rs757464897	0.00006
NM_053025.4(MYLK):c.2627G>A (p.Arg876His)	rs537224715	0.00006
NM_053025.4(MYLK):c.5702C>T (p.Thr1901Met)	rs200490629	0.00005
NM_053025.4(MYLK):c.1213A>G (p.Met405Val)	rs35436690	0.00004
NM_053025.4(MYLK):c.2124C>T (p.Ala708=)	rs372939794	0.00004
NM_053025.4(MYLK):c.2733G>A (p.Ser911=)	rs200117191	0.00004
NM_053025.4(MYLK):c.374-9T>C	rs376695367	0.00004
NM_053025.4(MYLK):c.4302A>G (p.Glu1434=)	rs145872838	0.00004
NM_053025.4(MYLK):c.993G>A (p.Thr331=)	rs55932343	0.00004
NM_053025.4(MYLK):c.2781C>T (p.Ala927=)	rs12172928	0.00003
NM_053025.4(MYLK):c.4104C>T (p.Ile1368=)	rs376676607	0.00003
NM_053025.4(MYLK):c.4743C>T (p.Ile1581=)	rs371814184	0.00003
NM_053025.4(MYLK):c.1023T>G (p.Thr341=)	rs201619646	0.00002
NM_053025.4(MYLK):c.1359C>T (p.Pro453=)	rs200973568	0.00002
NM_053025.4(MYLK):c.2628C>T (p.Arg876=)	rs571744275	0.00002
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter)	rs778050996	0.00002
NM_053025.4(MYLK):c.1630C>T (p.Arg544Trp)	rs552998417	0.00001
NM_053025.4(MYLK):c.1745C>A (p.Thr582Asn)	rs749069560	0.00001
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys)	rs143468713	0.00001
NM_053025.4(MYLK):c.2388C>T (p.Leu796=)	rs193007255	0.00001
NM_053025.4(MYLK):c.2604C>T (p.Asp868=)	rs372924929	0.00001
NM_053025.4(MYLK):c.3336C>A (p.Gly1112=)	rs1060504648	0.00001
NM_053025.4(MYLK):c.3372C>T (p.Asp1124=)	rs774568740	0.00001
NM_053025.4(MYLK):c.3705A>C (p.Ala1235=)	rs563569935	0.00001
NM_053025.4(MYLK):c.3900G>A (p.Ala1300=)	rs563116446	0.00001
NM_053025.4(MYLK):c.5703G>A (p.Thr1901=)	rs540804249	0.00001
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter)	rs545515041	0.00001
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser)	rs928811814
NM_053025.4(MYLK):c.1968G>T (p.Trp656Cys)	rs138172035
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr)	rs150936840
NM_053025.4(MYLK):c.260G>A (p.Gly87Glu)	rs368325180
NM_053025.4(MYLK):c.2760C>G (p.Ala920=)	rs368080781
NM_053025.4(MYLK):c.3024G>A (p.Val1008=)	rs886057860
NM_053025.4(MYLK):c.3184G>T (p.Ala1062Ser)	rs11558550
NM_053025.4(MYLK):c.3832-8G>C	rs202218458
NM_053025.4(MYLK):c.4289-9C>G	rs41443051
NM_053025.4(MYLK):c.999G>T (p.Pro333=)	rs13319347

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.