MYLK : c.2742C>A

MYLK gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2742C>Ap.D914E (Asp > Glu)substitutionmissense chr3:123419573 (reverse strand)0.10356419

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.10356419 (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
ExAC0.01635045
1091 / 66726		0.12043445
1253 / 10404		0.55616026
4803 / 8636		0.25096899
4144 / 16512		0.05839668
676 / 11576		0.07635319
505 / 6614		0.10816777
98 / 906		0.10356419
12570 / 121374
ESP 0.01721
148 / 8600		 0.11439
504 / 4406		 0.05013
652 / 13006
1KG
 0.01114
9 / 808		 0.15129
200 / 1322		 0.54960
554 / 1008		 0.32209
315 / 978		 0.04179
29 / 694		 0.12626
25 / 198		 0.22604
1132 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00549
1 / 182
British
0.11475
14 / 122
African-American
0.59140
110 / 186
Chinese Dai
0.32558
56 / 172
Bengali
0.02128
4 / 188
Colombian
0.00935
2 / 214
Iberian
0.15104
29 / 192
African-Caribbean
0.53883
111 / 206
Han, Beijing
0.33495
69 / 206
Gujarati Indian
0.06250
8 / 128
Mexican, LA
0.01869
4 / 214
Toscani
0.15657
31 / 198
Esan, Nigeria
0.40385
84 / 208
Japanese
0.27451
56 / 204
Indian Telugu
0.04706
8 / 170
Peruvian
0.01010
2 / 198
Utah Europeans
0.13274
30 / 226
Gambian
0.61111
121 / 198
Kinh, Vietnam
0.28646
55 / 192
Punjabi, Lahore
0.04327
9 / 208
Puerto Rican
0.18182
36 / 198
Luhya, Kenya
0.60952
128 / 210
Southern Han
0.38725
79 / 204
Tamil
0.10000
17 / 170
Mende
0.19907
43 / 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 ENST00000360304 NM_053025.3
Protein ENSP00000353452 Q15746

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
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.