MYBPC3 non-truncating variants in DCM cohorts


The table below lists the 9 rare (MAF<0.0001 in ExAC) non-truncating MYBPC3 variants identified in a cohort of 405 DCM patients. When this rare variant frequency of 0.02222 is compared with a background population rate of 0.01884, there is a case excess of 0.00338, 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 (405)OMGL class ExAC frequency
1. c.2429G>A p.R810Hmissense 1VUS0.000033
2. c.1724G>T p.G575Vmissense 1VUS0.000000
3. c.3154A>G p.M1052Vmissense 1VUS0.000033
4. c.818G>A p.R273Hmissense 1VUS0.000042
5. c.2300A>G p.K767Rmissense 1VUS0.000016
6. c.596T>G p.L199Rmissense 1VUS0.000000
7. c.2671C>T p.R891Wmissense 1VUS0.000031
8. c.148A>G p.S50Gmissense 1VUS0.000038
9. c.1123G>A p.V375Mmissense 1VUS0.000009

References

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2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8.