MYH11 : c.2061C>T

MYH11 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2061C>Tp.S687Ssubstitutionsplice site chr16:15842023 (reverse strand)0.06474934

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.06474934 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.06242372
4092 / 65552		0.05450237
552 / 10128		0.17873887
1525 / 8532		0.06323512
1043 / 16494		0.02290871
264 / 11524		0.03127875
204 / 6522		0.07494407
67 / 894		0.06474934
7747 / 119646
ESP 0.06698
576 / 8600		 0.05530
243 / 4394		 0.06303
819 / 12994
1KG
 0.05569
45 / 808		 0.05522
73 / 1322		 0.19246
194 / 1008		 0.06851
67 / 978		 0.05187
36 / 694		 0.02525
5 / 198		 0.08387
420 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.03297
6 / 182
British
0.05738
7 / 122
African-American
0.22581
42 / 186
Chinese Dai
0.08721
15 / 172
Bengali
0.02128
4 / 188
Colombian
0.04673
10 / 214
Iberian
0.02604
5 / 192
African-Caribbean
0.20874
43 / 206
Han, Beijing
0.04369
9 / 206
Gujarati Indian
0.00781
1 / 128
Mexican, LA
0.07009
15 / 214
Toscani
0.03535
7 / 198
Esan, Nigeria
0.12500
26 / 208
Japanese
0.06373
13 / 204
Indian Telugu
0.02941
5 / 170
Peruvian
0.07071
14 / 198
Utah Europeans
0.04425
10 / 226
Gambian
0.20202
40 / 198
Kinh, Vietnam
0.06250
12 / 192
Punjabi, Lahore
0.12500
26 / 208
Puerto Rican
0.11616
23 / 198
Luhya, Kenya
0.20476
43 / 210
Southern Han
0.08824
18 / 204
Tamil
0.05882
10 / 170
Mende
0.05093
11 / 216
Yoruba, Nigeria

The Exome Aggregation Consortium (ExAC) is a database of 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. There is partial overlap between ExAC and 1000 Genomes (1KG) (1,851 of the 2,504 samples in 1KG) and the Exome Sequencing Project (ESP) (3,936 of the 6,500 samples in ESP).


Other Variant & Gene Details

Canonical Sequences
Transcript ENST00000300036 NM_002474.2
Protein ENSP00000300036 P35749



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.

3. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8.