TTN : c.26408A>G

TTN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.26408A>Gp.N8803S (Asn > Ser)substitutionmissense chr2:179579093 (reverse strand)0.17930085

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.17930085 (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
ExAC0.14575391
9711 / 66626		0.16158412
1579 / 9772		0.42597765
3660 / 8592		0.23394718
3862 / 16508		0.17660312
2038 / 11540		0.09397700
621 / 6608		0.15888889
143 / 900		0.17930085
21614 / 120546
ESP 0.15056
1240 / 8236		 0.15791
595 / 3768		 0.15287
1835 / 12004
1KG
 0.17203
139 / 808		 0.19365
256 / 1322		 0.43651
440 / 1008		 0.26074
255 / 978		 0.18588
129 / 694		 0.09091
18 / 198		 0.24700
1237 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.20879
38 / 182
British
0.18033
22 / 122
African-American
0.51075
95 / 186
Chinese Dai
0.26744
46 / 172
Bengali
0.18085
34 / 188
Colombian
0.16822
36 / 214
Iberian
0.17188
33 / 192
African-Caribbean
0.39320
81 / 206
Han, Beijing
0.23786
49 / 206
Gujarati Indian
0.13281
17 / 128
Mexican, LA
0.18692
40 / 214
Toscani
0.17172
34 / 198
Esan, Nigeria
0.37981
79 / 208
Japanese
0.28922
59 / 204
Indian Telugu
0.20588
35 / 170
Peruvian
0.12626
25 / 198
Utah Europeans
0.22124
50 / 226
Gambian
0.44444
88 / 198
Kinh, Vietnam
0.24479
47 / 192
Punjabi, Lahore
0.20673
43 / 208
Puerto Rican
0.19697
39 / 198
Luhya, Kenya
0.46190
97 / 210
Southern Han
0.26471
54 / 204
Tamil
0.20588
35 / 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 ENST00000589042 LRG_391t1NM_001267550.1
Protein ENSP00000467141 LRG_391p1

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
12.5% of algorithms have predicted that this variant will adversely affect protein function
damaging conservative benign benign
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.