TTN : c.2432C>T

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2432C>Tp.T811I (Thr > Ile)substitutionmissense chr2:179650408 (reverse strand)0.16907050

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.16907050 (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
ExAC0.23829296
15897 / 66712
0.10611303
1104 / 10404
0.00011593
1 / 8626
0.07710478
1273 / 16510
0.10897769
1260 / 11562
0.12250454
810 / 6612
0.18612335
169 / 908
0.16907050
20514 / 121334
ESP 0.23453
2017 / 8600
0.10213
450 / 4406
0.18968
2467 / 13006
1KG
0.23515
190 / 808
0.08623
114 / 1322
0.00099
1 / 1008
0.06851
67 / 978
0.14986
104 / 694
0.13636
27 / 198
0.10044
503 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.20330
37 / 182
British
0.12295
15 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.02326
4 / 172
Bengali
0.17553
33 / 188
Colombian
0.24766
53 / 214
Iberian
0.10417
20 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.07767
16 / 206
Gujarati Indian
0.13281
17 / 128
Mexican, LA
0.26168
56 / 214
Toscani
0.05556
11 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.10294
21 / 204
Indian Telugu
0.08235
14 / 170
Peruvian
0.22222
44 / 198
Utah Europeans
0.03982
9 / 226
Gambian
0.00505
1 / 198
Kinh, Vietnam
0.07812
15 / 192
Punjabi, Lahore
0.19231
40 / 208
Puerto Rican
0.16162
32 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.05392
11 / 204
Tamil
0.04706
8 / 170
Mende
0.08796
19 / 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
25% of algorithms have predicted that this variant will adversely affect protein function
damaging moderately conservative probably damaging
LRT MutationTaster MutationAssessor FATHMM
polymorphism (auto) 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.