ClinVar Miner

Variants in gene ACTA1 with conflicting interpretations

See also:
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
458 23 0 19 9 0 5 32

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 12 3 0 0
likely pathogenic 12 0 4 0 0
uncertain significance 3 4 0 7 2
likely benign 0 0 7 0 7
benign 0 0 2 7 0

All variants with conflicting interpretations #

Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.130-10G>C rs41271481 0.20670
NM_001100.4(ACTA1):c.996C>A (p.Ile332=) rs74897770 0.01920
NM_001100.4(ACTA1):c.129+31C>A rs144658220 0.01631
NM_001100.4(ACTA1):c.453C>A (p.Thr151=) rs76030344 0.00904
NM_001100.4(ACTA1):c.617-5C>T rs199804338 0.00399
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
NM_001100.4(ACTA1):c.549G>A (p.Ala183=) rs200094415 0.00027
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 0.00003
NM_001100.4(ACTA1):c.246T>C (p.Asp82=) rs373785144 0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) rs1659932688
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) rs1659978909
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) rs1571893814
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.809-18dup rs398123565
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374

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