TTN : c.36508G>A

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.36508G>Ap.E12170K (Glu > Lys)substitutionmissense chr2:179528378 (reverse strand)0.14758806

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.14758806 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

The role on non-truncating TTN variants in cardiac disease has not yet been analysed in these studies.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.06323684
4098 / 64804
0.47385331
4277 / 9026
0.13354973
1152 / 8626
0.24348879
4020 / 16510
0.25306934
2927 / 11566
0.12579377
832 / 6614
0.12892377
115 / 892
0.14758806
17421 / 118038
ESP 0.05600
223 / 3982
0.47317
829 / 1752
0.18347
1052 / 5734
1KG
0.06312
51 / 808
0.50303
665 / 1322
0.13393
135 / 1008
0.26994
264 / 978
0.22767
158 / 694
0.12626
25 / 198
0.25919
1298 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.06044
11 / 182
British
0.44262
54 / 122
African-American
0.15591
29 / 186
Chinese Dai
0.34302
59 / 172
Bengali
0.21809
41 / 188
Colombian
0.05607
12 / 214
Iberian
0.48958
94 / 192
African-Caribbean
0.11650
24 / 206
Han, Beijing
0.23786
49 / 206
Gujarati Indian
0.26562
34 / 128
Mexican, LA
0.06542
14 / 214
Toscani
0.58081
115 / 198
Esan, Nigeria
0.08654
18 / 208
Japanese
0.26961
55 / 204
Indian Telugu
0.31176
53 / 170
Peruvian
0.07071
14 / 198
Utah Europeans
0.51327
116 / 226
Gambian
0.17172
34 / 198
Kinh, Vietnam
0.25000
48 / 192
Punjabi, Lahore
0.14423
30 / 208
Puerto Rican
0.49495
98 / 198
Luhya, Kenya
0.14286
30 / 210
Southern Han
0.25980
53 / 204
Tamil
0.47059
80 / 170
Mende
0.50000
108 / 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 ENST00000589042 LRG_391t1NM_001267550.1
Protein ENSP00000467141 LRG_391p1

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


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.