MYBPC3 non-truncating variants in DCM cohorts

The table below lists the 20 rare (MAF<0.0001 in ExAC) non-truncating MYBPC3 variants identified in a cohort of 756 DCM patients. When this rare variant frequency of 0.02646 is compared with a background population rate of 0.01884, there is a case excess of 0.00762, although this is not statistically significant for non-truncating MYBPC3 variants in DCM (p=0.1278).

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 (756)LMM class ExAC frequency
1. c.529C>T p.R177Cmissense 2VUS0.000062
2. c.994G>A p.E332Kmissense 2VUS0.000009
3. c.3005G>A p.R1002Qmissense 1VUS0.000046
4. c.745T>C p.C249Rmissense 1VUS0.000010
5. c.1246G>A p.G416Smissense 1Likely Benign0.000028
6. c.239delCinsGAGG inframe 1VUS favour pathogenic0.000000
7. c.1422G>C p.E474Dmissense 1VUS0.000000
8. c.2641G>A p.V881Imissense 1VUS0.000018
9. c.917G>A p.R306Qmissense 1VUS0.000036
10. c.1373G>A p.R458Hmissense 1VUS0.000044
11. c.206G>A p.R69Qmissense 1Likely Benign0.000024
12. c.713G>A p.R238Hmissense 1VUS0.000074
13. c.2909G>A p.R970Qmissense 1VUS0.000032
14. c.121C>T p.R41Cmissense 1VUS0.000034
15. c.148A>G p.S50Gmissense 1VUS0.000038
16. c.166G>A p.G56Smissense 1VUS0.000015
17. c.3677G>T p.R1226Lmissense 1VUS0.000000
18. c.1976T>C p.I659Tmissense 1VUS favour pathogenic0.000000


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