MYOM1 : c.1338C>T

MYOM1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1338C>Tp.N446Nsubstitutionsplice site chr18:3168816 (reverse strand)0.26201991

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.26201991 (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
ExAC0.26186255
17428 / 66554		0.32546686
3172 / 9746		0.27468561
2359 / 8588		0.28546272
4701 / 16468		0.18859878
2167 / 11490		0.22629506
1494 / 6602		0.23601790
211 / 894		0.26201991
31532 / 120342
ESP 0.26483
2179 / 8228		 0.31054
1167 / 3758		 0.27916
3346 / 11986
1KG
 0.25000
202 / 808		 0.33132
438 / 1322		 0.27976
282 / 1008		 0.32004
313 / 978		 0.20605
143 / 694		 0.17677
35 / 198		 0.28215
1413 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.26923
49 / 182
British
0.38525
47 / 122
African-American
0.30645
57 / 186
Chinese Dai
0.38372
66 / 172
Bengali
0.15957
30 / 188
Colombian
0.21963
47 / 214
Iberian
0.30729
59 / 192
African-Caribbean
0.19903
41 / 206
Han, Beijing
0.32524
67 / 206
Gujarati Indian
0.21094
27 / 128
Mexican, LA
0.21028
45 / 214
Toscani
0.26768
53 / 198
Esan, Nigeria
0.28846
60 / 208
Japanese
0.28922
59 / 204
Indian Telugu
0.14118
24 / 170
Peruvian
0.30808
61 / 198
Utah Europeans
0.34513
78 / 226
Gambian
0.32828
65 / 198
Kinh, Vietnam
0.27604
53 / 192
Punjabi, Lahore
0.29808
62 / 208
Puerto Rican
0.33838
67 / 198
Luhya, Kenya
0.28095
59 / 210
Southern Han
0.33333
68 / 204
Tamil
0.38824
66 / 170
Mende
0.31481
68 / 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.