MYOM1 : c.644C>T

MYOM1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.644C>Tp.T215M (Thr > Met)substitutionmissense chr18:3188873 (reverse strand)0.05654999

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05654999 (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
ExAC0.05726152
3819 / 66694		0.13901391
1359 / 9776		0.00011596
1 / 8624		0.06393164
1055 / 16502		0.02905067
336 / 11566		0.03115547
206 / 6612		0.05345212
48 / 898		0.05654999
6824 / 120672
ESP 0.05864
490 / 8356		 0.13028
531 / 4076		 0.08213
1021 / 12432
1KG
 0.07673
62 / 808		 0.14902
197 / 1322		 0.00198
2 / 1008		 0.05828
57 / 978		 0.05043
35 / 694		 0.03030
6 / 198		 0.07169
359 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.08242
15 / 182
British
0.17213
21 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.03488
6 / 172
Bengali
0.03723
7 / 188
Colombian
0.05140
11 / 214
Iberian
0.16146
31 / 192
African-Caribbean
0.00971
2 / 206
Han, Beijing
0.07282
15 / 206
Gujarati Indian
0.05469
7 / 128
Mexican, LA
0.07477
16 / 214
Toscani
0.15657
31 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.09314
19 / 204
Indian Telugu
0.02353
4 / 170
Peruvian
0.10101
20 / 198
Utah Europeans
0.16814
38 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.03646
7 / 192
Punjabi, Lahore
0.08173
17 / 208
Puerto Rican
0.13131
26 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.04902
10 / 204
Tamil
0.15294
26 / 170
Mende
0.11111
24 / 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
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative possibly damaging benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism 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.