MYLK : c.3196_3198delGAA

MYLK gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.3196_3198delGAAp.Glu1066deldeletioninframe chr3:123419117-123419119 (reverse strand)0.06835143

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.06835143 (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
ExAC0.01045881
698 / 66738		0.02460592
256 / 10404		0.50416185
4361 / 8650		0.15433071
2548 / 16510		0.02193816
254 / 11578		0.01799214
119 / 6614		0.06828194
62 / 908		0.06835143
8298 / 121402
ESP 0.01502
124 / 8254		 0.02508
107 / 4266
231 / 12520
1KG
 0.00990
8 / 808		 0.02118
28 / 1322		 0.49802
502 / 1008		 0.20859
204 / 978		 0.01729
12 / 694		 0.03030
6 / 198		 0.15176
760 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00549
1 / 182
British
0.04918
6 / 122
African-American
0.56452
105 / 186
Chinese Dai
0.21512
37 / 172
Bengali
0.00532
1 / 188
Colombian
0.00935
2 / 214
Iberian
0.02083
4 / 192
African-Caribbean
0.50000
103 / 206
Han, Beijing
0.21359
44 / 206
Gujarati Indian
0.03906
5 / 128
Mexican, LA
0.01402
3 / 214
Toscani
0.03030
6 / 198
Esan, Nigeria
0.35096
73 / 208
Japanese
0.17157
35 / 204
Indian Telugu
0.03529
6 / 170
Peruvian
0.01010
2 / 198
Utah Europeans
0.00885
2 / 226
Gambian
0.51515
102 / 198
Kinh, Vietnam
0.20312
39 / 192
Punjabi, Lahore
0.00000
0 / 208
Puerto Rican
0.00505
1 / 198
Luhya, Kenya
0.56667
119 / 210
Southern Han
0.24020
49 / 204
Tamil
0.01765
3 / 170
Mende
0.02778
6 / 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



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.