MYOM1 : c.4685+11G>T

MYOM1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.4685+11G>Tsubstitutionsplice site chr18:3075712 (reverse strand)0.53986869

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.53986869 (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
ExAC0.49722504
25444 / 51172		0.87933673
6894 / 7840		0.52279682
3417 / 6536		0.58545402
8098 / 13832		0.39667129
2860 / 7210		0.55429436
2930 / 5286		0.48214286
351 / 728		0.53986869
49994 / 92604
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.43936
355 / 808		 0.95991
1269 / 1322		 0.51488
519 / 1008		 0.57669
564 / 978		 0.43084
299 / 694		 0.57071
113 / 198		 0.62280
3119 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.39560
72 / 182
British
0.89344
109 / 122
African-American
0.52151
97 / 186
Chinese Dai
0.60465
104 / 172
Bengali
0.45213
85 / 188
Colombian
0.43458
93 / 214
Iberian
0.91667
176 / 192
African-Caribbean
0.51456
106 / 206
Han, Beijing
0.60194
124 / 206
Gujarati Indian
0.34375
44 / 128
Mexican, LA
0.45794
98 / 214
Toscani
0.98485
195 / 198
Esan, Nigeria
0.53365
111 / 208
Japanese
0.59314
121 / 204
Indian Telugu
0.42353
72 / 170
Peruvian
0.46465
92 / 198
Utah Europeans
0.96903
219 / 226
Gambian
0.47980
95 / 198
Kinh, Vietnam
0.54167
104 / 192
Punjabi, Lahore
0.47115
98 / 208
Puerto Rican
0.94949
188 / 198
Luhya, Kenya
0.52381
110 / 210
Southern Han
0.54412
111 / 204
Tamil
0.99412
169 / 170
Mende
0.98611
213 / 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.