ClinVar Miner

Variants with conflicting interpretations studied for ANKRD11-related condition

Minimum review status of the submission for ANKRD11-related condition: Collection method of the submission for ANKRD11-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
88 41 0 40 5 0 0 44

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
ANKRD11-related condition pathogenic uncertain significance likely benign benign
likely pathogenic 1 0 0 0
uncertain significance 0 0 2 0
likely benign 0 3 0 31
benign 0 0 8 0

Condition to condition summary #

Total conditions: 3
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 39 0 40 4 0 0 44
not specified 0 8 0 4 0 0 0 4
Global developmental delay; Seizure; Atypical behavior; Macrocephaly; Hand tremor 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00377
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val) rs372632879 0.00155
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His) rs201043388 0.00154
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=) rs144309427 0.00137
NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu) rs200531141 0.00124
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile) rs200852197 0.00111
NM_013275.6(ANKRD11):c.4619A>G (p.Lys1540Arg) rs145415643 0.00096
NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu) rs202216051 0.00086
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu) rs200351209 0.00083
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala) rs201401760 0.00083
NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=) rs144721281 0.00076
NM_013275.6(ANKRD11):c.1027G>A (p.Val343Ile) rs147744268 0.00071
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln) rs149776253 0.00070
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_013275.6(ANKRD11):c.6791C>T (p.Pro2264Leu) rs565435346 0.00061
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu) rs138898373 0.00057
NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=) rs190789698 0.00053
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys) rs140373729 0.00048
NM_013275.6(ANKRD11):c.6201C>T (p.Ser2067=) rs753589168 0.00047
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958 0.00046
NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=) rs376468392 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr) rs140370885 0.00042
NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr) rs139239852 0.00041
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=) rs142469039 0.00041
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser) rs144516367 0.00036
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464 0.00035
NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser) rs202203523 0.00034
NM_013275.6(ANKRD11):c.5766C>T (p.Ala1922=) rs373393326 0.00034
NM_013275.6(ANKRD11):c.546G>T (p.Arg182=) rs772287589 0.00026
NM_013275.6(ANKRD11):c.7714-3C>A rs199741062 0.00026
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu) rs201589586 0.00023
NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu) rs570265865 0.00015
NM_013275.6(ANKRD11):c.69G>A (p.Glu23=) rs533051571 0.00010
NM_013275.6(ANKRD11):c.3418G>A (p.Ala1140Thr) rs369869329 0.00001
NM_013275.6(ANKRD11):c.7368C>T (p.Cys2456=) rs139103143 0.00001
NM_013275.6(ANKRD11):c.3889_3891dup (p.Asn1297dup) rs778998883
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=) rs143428884
NM_013275.6(ANKRD11):c.4236AGA[1] (p.Glu1413del) rs778347369
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile) rs151288302
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=) rs762643863
NM_013275.6(ANKRD11):c.6977C>T (p.Ala2326Val) rs576742682
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg) rs1131691512

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