MYOM1 : c.64G>C

MYOM1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.64G>Cp.V22L (Val > Leu)substitutionmissense chr18:3215158 (reverse strand)0.10696710

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.10696710 (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
ExAC0.09838638
6207 / 63088		0.13089649
1171 / 8946		0.17397697
1420 / 8162		0.11577592
1798 / 15530		0.07706802
818 / 10614		0.10103126
627 / 6206		0.10426540
88 / 844		0.10696710
12129 / 113390
ESP 0.08595
729 / 8482		 0.11895
501 / 4212		 0.09690
1230 / 12694
1KG
 0.08663
70 / 808		 0.13389
177 / 1322		 0.18452
186 / 1008		 0.12781
125 / 978		 0.08790
61 / 694		 0.11111
22 / 198		 0.12800
641 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.09341
17 / 182
British
0.17213
21 / 122
African-American
0.21505
40 / 186
Chinese Dai
0.16860
29 / 172
Bengali
0.06915
13 / 188
Colombian
0.08879
19 / 214
Iberian
0.13021
25 / 192
African-Caribbean
0.13107
27 / 206
Han, Beijing
0.11650
24 / 206
Gujarati Indian
0.08594
11 / 128
Mexican, LA
0.05140
11 / 214
Toscani
0.14141
28 / 198
Esan, Nigeria
0.15385
32 / 208
Japanese
0.13235
27 / 204
Indian Telugu
0.08235
14 / 170
Peruvian
0.11616
23 / 198
Utah Europeans
0.11504
26 / 226
Gambian
0.24747
49 / 198
Kinh, Vietnam
0.10938
21 / 192
Punjabi, Lahore
0.11058
23 / 208
Puerto Rican
0.11616
23 / 198
Luhya, Kenya
0.18095
38 / 210
Southern Han
0.11765
24 / 204
Tamil
0.14706
25 / 170
Mende
0.13426
29 / 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

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) neutral tolerated


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.