ClinVar Miner

Variants in gene ACTA1 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 Variants with at least 2 submissions 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 kind of conflict
128 22 5 14 0 0 2 21

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 5 5 0 0 0
likely pathogenic 5 0 2 0 0
uncertain significance 0 2 0 0 0
likely benign 0 0 0 0 9
benign 0 0 0 9 0

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_001100.3(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.3(ACTA1):c.129+31C>A rs144658220
NM_001100.3(ACTA1):c.130-10G>C rs41271481
NM_001100.3(ACTA1):c.130-5T>C rs11803533
NM_001100.3(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.3(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.3(ACTA1):c.453C>A (p.Thr151=) rs76030344
NM_001100.3(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.3(ACTA1):c.616G>A (p.Ala206Thr) rs1057521119
NM_001100.3(ACTA1):c.617-5C>T rs199804338
NM_001100.3(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.3(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001100.3(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.809-12dupC rs201427429
NM_001100.3(ACTA1):c.809-14G>C rs6673359
NM_001100.3(ACTA1):c.809-15dupC rs398123565
NM_001100.3(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001100.3(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001100.3(ACTA1):c.996C>A (p.Ile332=) rs74897770

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