ABCC9 variants in DCM cohorts


The table below lists the 8 rare (MAF<0.0001 in ExAC) protein-altering ABCC9 variants identified in a cohort of 590 DCM patients. When this rare variant frequency of 0.01356 is compared with a background population rate of 0.00874, there is a case excess of 0.00482, although this is not statistically significant for protein-altering ABCC9 variants in DCM (p=0.1847).


Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      LMM



No. Variant (CDS) Variant (Protein) Variant Type Cases (590)LMM class ExAC frequency
1. c.2149G>A p.A717Tmissense 1VUS (1)0.000000
2. c.169C>T p.Q57Xnonsense 1Likely Pathogenic (1)0.000008
3. c.1358G>C p.G453Amissense 1VUS (1)0.000000
4. c.1142T>A p.I381Nmissense 1VUS (1)0.000008
5. c.2000C>A p.T667Kmissense 1VUS (1)0.000000
6. c.4613A>G p.N1538Smissense 1VUS (1)0.000008
7. c.4352T>C p.V1451Amissense 1VUS (1)0.000008
8. c.1987C>T p.R663Cmissense 1VUS (1)0.000074

References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

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.