ClinVar Miner

Variants with conflicting interpretations studied for ANK2-related condition

Minimum review status of the submission for ANK2-related condition: Collection method of the submission for ANK2-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
24 26 0 37 12 0 3 49

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
ANK2-related condition pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 1 1 0 8 1
likely benign 1 0 4 0 25
benign 0 0 0 12 0

Condition to condition summary #

Total conditions: 6
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 provided 0 27 0 22 4 0 2 26
Cardiovascular phenotype 0 45 0 13 10 0 0 23
not specified 0 19 0 16 2 0 0 18
Death in infancy 0 0 0 0 0 0 1 1
Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 1 0 0 0 1
Supraventricular tachycardia 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696 0.00282
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00203
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) rs66785829 0.00200
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=) rs56173868 0.00156
NM_001148.6(ANK2):c.6906C>T (p.Thr2302=) rs139910215 0.00133
NM_001148.6(ANK2):c.8658A>G (p.Leu2886=) rs149433267 0.00133
NM_001148.6(ANK2):c.11718G>A (p.Arg3906=) rs35724152 0.00128
NM_001148.6(ANK2):c.5985G>A (p.Lys1995=) rs116652427 0.00095
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336 0.00084
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) rs200765866 0.00058
NM_001148.6(ANK2):c.2900+5135G>A rs139641776 0.00054
NM_001148.6(ANK2):c.130C>G (p.Leu44Val) rs145272651 0.00051
NM_001148.6(ANK2):c.231G>A (p.Val77=) rs149699185 0.00049
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00031
NM_001148.6(ANK2):c.7707A>G (p.Ala2569=) rs144407821 0.00026
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=) rs148462839 0.00022
NM_001148.6(ANK2):c.997C>T (p.Leu333=) rs201024064 0.00021
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039 0.00014
NM_001148.6(ANK2):c.4372-7C>T rs370720661 0.00014
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_001148.6(ANK2):c.7117A>G (p.Thr2373Ala) rs184514058 0.00012
NM_001148.6(ANK2):c.8673C>T (p.Pro2891=) rs374884110 0.00010
NM_001148.6(ANK2):c.2127T>C (p.Asn709=) rs113454484 0.00009
NM_001148.6(ANK2):c.5313G>A (p.Lys1771=) rs140992864 0.00009
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg) rs150808807 0.00006
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys) rs143043717 0.00006
NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu) rs141212932 0.00006
NM_001148.6(ANK2):c.8484T>C (p.Asp2828=) rs371140760 0.00006
NM_001148.6(ANK2):c.85-5C>T rs372560419 0.00006
NM_001148.6(ANK2):c.3927A>G (p.Glu1309=) rs567570285 0.00002
NM_001148.6(ANK2):c.10573G>A (p.Glu3525Lys) rs781552524 0.00001
NM_001148.6(ANK2):c.1803T>C (p.His601=) rs144016063 0.00001
NM_001148.6(ANK2):c.3125+6G>A rs763791737 0.00001
NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser) rs55726422
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu) rs556640912
NM_001148.6(ANK2):c.11859+2T>G
NM_001148.6(ANK2):c.1937C>T (p.Ser646Phe) rs786205724
NM_001148.6(ANK2):c.5778G>A (p.Pro1926=) rs754030532
NM_001148.6(ANK2):c.7084A>G (p.Lys2362Glu)
NM_001148.6(ANK2):c.7706_7707inv (p.Ala2569Val)
NM_001148.6(ANK2):c.9474G>T (p.Pro3158=) rs145111737
NM_001148.6(ANK2):c.9590A>G (p.Asp3197Gly)

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