ACTN2 variants in HCM cohorts

The table below lists the 10 rare (MAF<0.0001 in ExAC) protein-altering ACTN2 variants identified in a cohort of 1439 HCM patients (807 patients from OMGL, 632 patients from LMM). As the background population rate of rare protein-altering ACTN2 variants (0.01086) is greater than this case frequency (0.00695), there is no excess of variants in this HCM patient cohort, suggesting that protein-altering ACTN2 variants are not causative for HCM.

Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (1439)OMGL classLMM class ExAC frequency
1. c.1593G>A p.W531Xnonsense 1VUS favour pathogenic (1)0.000000
2. c.690T>A p.D230Emissense 1VUS (1)0.000098
3. c.58A>G p.M20Vmissense 1VUS (1)0.000000
4. c.1771A>G p.I591Vmissense 1VUS (1)0.000008
5. c.1057C>T p.R353Wmissense 1VUS (1)0.000016
6. c.979C>T p.R327Cmissense 1VUS (1)0.000024
7. c.274A>G p.M92Vmissense 1VUS (1)0.000000
8. c.2386C>T p.R796Cmissense 1VUS favour pathogenic (1)0.000008
9. c.1714C>T p.R572Wmissense 1VUS (1)0.000049
10. c.1958T>C p.I653Tmissense 1VUS (1)0.000000


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