TTN : c.39749_39766delTTGCTCCTGAAGAGGAAA

TTN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.39749_39766delTTGCTCCTGAAGAGGAAAdeletioninframe chr2:179514942-179514959 (reverse strand)0.000000

Effect in Cardiac Disease

This variant is considered a rare variant and is not detected in the ExAC population database (>60,000 samples).

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
ExAC0.000000
0 / 66740		0.000000
0 / 10406		0.000000
0 / 8654		0.000000
0 / 16512		0.000000
0 / 11578		0.000000
0 / 6614		0.000000
0 / 908		0.000000
0 / 121412
ESP 0.00488
38 / 7794		 0.03136
109 / 3476		 0.01304
147 / 11270
1KG
 0.01485
12 / 808		 0.08396
111 / 1322		 0.01190
12 / 1008		 0.01738
17 / 978		 0.01729
12 / 694		 0.01010
2 / 198		 0.03315
166 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.01099
2 / 182
British
0.07377
9 / 122
African-American
0.01075
2 / 186
Chinese Dai
0.02326
4 / 172
Bengali
0.02128
4 / 188
Colombian
0.01402
3 / 214
Iberian
0.05208
10 / 192
African-Caribbean
0.01456
3 / 206
Han, Beijing
0.00000
0 / 206
Gujarati Indian
0.00781
1 / 128
Mexican, LA
0.02336
5 / 214
Toscani
0.07576
15 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.01961
4 / 204
Indian Telugu
0.00000
0 / 170
Peruvian
0.01010
2 / 198
Utah Europeans
0.13274
30 / 226
Gambian
0.03030
6 / 198
Kinh, Vietnam
0.03125
6 / 192
Punjabi, Lahore
0.03365
7 / 208
Puerto Rican
0.10101
20 / 198
Luhya, Kenya
0.00476
1 / 210
Southern Han
0.01471
3 / 204
Tamil
0.08824
15 / 170
Mende
0.05556
12 / 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



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.