MYL2 non-truncating variants in HCM cohorts

The table below lists the 10 rare (MAF<0.0001 in ExAC) non-truncating MYL2 variants identified in a cohort of 1535 HCM patients. When this rare variant frequency of 0.00651 is compared with a background population rate of 0.00154, there is a statistically significant case excess of 0.00497 (p<0.0001), which suggests that approximately 8 of these variants may be pathogenic.

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 (1535)OMGL class ExAC frequency
1. c.64G>A p.E22Kmissense 3Pathogenic0.000008
2. c.257T>C p.F86Smissense 2VUS0.000008
3. c.173G>A p.R58Qmissense 2Pathogenic0.000008
4. c.485_487del p.Gly162delinframe 1VUS0.000000
5. c.80A>G p.Q27Rmissense 1VUS0.000000
6. c.458A>G p.K153Rmissense 1VUS0.000000


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