MYO6 : c.553+11T>C

MYO6 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.553+11T>Csubstitutionsplice site chr6:76545684 (forward strand)0.12145742

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.12145742 (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
ExAC0.14816160
9792 / 66090		0.11302831
1166 / 10316		0.02779070
239 / 8600		0.09684133
1582 / 16336		0.07375479
847 / 11484		0.12845011
847 / 6594		0.15631929
141 / 902		0.12145742
14614 / 120322
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.16708
135 / 808		 0.11044
146 / 1322		 0.03869
39 / 1008		 0.09407
92 / 978		 0.10231
71 / 694		 0.15657
31 / 198		 0.10264
514 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.13736
25 / 182
British
0.12295
15 / 122
African-American
0.03226
6 / 186
Chinese Dai
0.10465
18 / 172
Bengali
0.09043
17 / 188
Colombian
0.18692
40 / 214
Iberian
0.11979
23 / 192
African-Caribbean
0.01942
4 / 206
Han, Beijing
0.08738
18 / 206
Gujarati Indian
0.07812
10 / 128
Mexican, LA
0.15421
33 / 214
Toscani
0.08081
16 / 198
Esan, Nigeria
0.07692
16 / 208
Japanese
0.11765
24 / 204
Indian Telugu
0.04706
8 / 170
Peruvian
0.18687
37 / 198
Utah Europeans
0.13717
31 / 226
Gambian
0.03535
7 / 198
Kinh, Vietnam
0.08854
17 / 192
Punjabi, Lahore
0.17308
36 / 208
Puerto Rican
0.15152
30 / 198
Luhya, Kenya
0.02857
6 / 210
Southern Han
0.07353
15 / 204
Tamil
0.10588
18 / 170
Mende
0.06019
13 / 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 ENST00000369977 LRG_438t1NM_004999.3
Protein ENSP00000358994 LRG_438p1



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.