MYOM1 : c.3576-5C>T

MYOM1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3576-5C>Tsubstitutionsplice site chr18:3100429 (reverse strand)0.44223876

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.44223876 (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
ExAC0.47096499
28678 / 60892		0.20553539
1812 / 8816		0.38534866
2951 / 7658		0.39131579
5948 / 15200		0.61558268
6455 / 10486		0.39154229
2361 / 6030		0.48444976
405 / 836		0.44223876
48610 / 109918
ESP 0.44702
3679 / 8230		 0.19622
757 / 3858		 0.36698
4436 / 12088
1KG
 0.48639
393 / 808		 0.14070
186 / 1322		 0.35615
359 / 1008		 0.36401
356 / 978		 0.53314
370 / 694		 0.39899
79 / 198		 0.34804
1743 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.50549
92 / 182
British
0.16393
20 / 122
African-American
0.41398
77 / 186
Chinese Dai
0.31977
55 / 172
Bengali
0.51064
96 / 188
Colombian
0.49533
106 / 214
Iberian
0.16667
32 / 192
African-Caribbean
0.32039
66 / 206
Han, Beijing
0.33495
69 / 206
Gujarati Indian
0.60938
78 / 128
Mexican, LA
0.50935
109 / 214
Toscani
0.11616
23 / 198
Esan, Nigeria
0.25481
53 / 208
Japanese
0.36275
74 / 204
Indian Telugu
0.53529
91 / 170
Peruvian
0.43434
86 / 198
Utah Europeans
0.10619
24 / 226
Gambian
0.37879
75 / 198
Kinh, Vietnam
0.40104
77 / 192
Punjabi, Lahore
0.50481
105 / 208
Puerto Rican
0.15657
31 / 198
Luhya, Kenya
0.41905
88 / 210
Southern Han
0.39706
81 / 204
Tamil
0.16471
28 / 170
Mende
0.12963
28 / 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 ENST00000356443 LRG_426t1NM_003803.3
Protein ENSP00000348821 LRG_426p1P52179



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.