MYOM1 : c.4222G>A

MYOM1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.4222G>Ap.D1408N (Asp > Asn)substitutionmissense chr18:3086065 (reverse strand)0.07286908

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.07286908 (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
ExAC0.07825041
5206 / 66530		0.01339742
131 / 9778		0.04695490
404 / 8604		0.09726942
1603 / 16480		0.07991661
920 / 11512		0.07075758
467 / 6600		0.04719101
42 / 890		0.07286908
8773 / 120394
ESP 0.07160
588 / 8212		 0.01628
61 / 3746		 0.05427
649 / 11958
1KG
 0.05941
48 / 808		 0.00681
9 / 1322		 0.05853
59 / 1008		 0.08487
83 / 978		 0.06772
47 / 694		 0.07576
15 / 198		 0.05212
261 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.06593
12 / 182
British
0.04098
5 / 122
African-American
0.05376
10 / 186
Chinese Dai
0.09302
16 / 172
Bengali
0.08511
16 / 188
Colombian
0.05607
12 / 214
Iberian
0.02083
4 / 192
African-Caribbean
0.05825
12 / 206
Han, Beijing
0.06311
13 / 206
Gujarati Indian
0.06250
8 / 128
Mexican, LA
0.04673
10 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.07212
15 / 208
Japanese
0.10294
21 / 204
Indian Telugu
0.08235
14 / 170
Peruvian
0.07071
14 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.04040
8 / 198
Kinh, Vietnam
0.12500
24 / 192
Punjabi, Lahore
0.04327
9 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.06667
14 / 210
Southern Han
0.04412
9 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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
50% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative possibly damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
deleterious disease-causing low impact 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.