ClinVar Miner

Variants in gene ACTG1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
184 39 0 18 5 0 0 22

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.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 4 2
likely benign 0 0 4 0 17
benign 0 0 2 17 0

All variants with conflicting interpretations #

Total variants: 22
Download table as spreadsheet
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) rs201121917
NM_001614.5(ACTG1):c.123+8G>A rs536476533
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345
NM_001614.5(ACTG1):c.803-3T>C rs369438865
NM_001614.5(ACTG1):c.803-6C>T rs199600452
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110
NM_001614.5(ACTG1):c.985-5T>C rs370546734

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