TTN : c.98098+9T>A

TTN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.98098+9T>Asubstitutionsplice site chr2:179404786 (reverse strand)0.18308465

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.18308465 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

OMGL: Detected in 0 / 304 DCM patients.

LMM:   Detected in 0 / 156 DCM patients.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.14710368
9645 / 65566		0.14171452
1382 / 9752		0.43537098
3732 / 8572		0.27125506
3618 / 13338		0.15354536
1767 / 11508		0.14801935
979 / 6614		0.17824074
154 / 864		0.18308465
21277 / 116214
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.13119
106 / 808		 0.14826
196 / 1322		 0.45437
458 / 1008		 0.26892
263 / 978		 0.15706
109 / 694		 0.16667
33 / 198		 0.23263
1165 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.13736
25 / 182
British
0.11475
14 / 122
African-American
0.59677
111 / 186
Chinese Dai
0.30233
52 / 172
Bengali
0.15426
29 / 188
Colombian
0.14486
31 / 214
Iberian
0.14062
27 / 192
African-Caribbean
0.35922
74 / 206
Han, Beijing
0.25243
52 / 206
Gujarati Indian
0.10938
14 / 128
Mexican, LA
0.12150
26 / 214
Toscani
0.17172
34 / 198
Esan, Nigeria
0.43750
91 / 208
Japanese
0.27451
56 / 204
Indian Telugu
0.17647
30 / 170
Peruvian
0.12121
24 / 198
Utah Europeans
0.15929
36 / 226
Gambian
0.44949
89 / 198
Kinh, Vietnam
0.26042
50 / 192
Punjabi, Lahore
0.17308
36 / 208
Puerto Rican
0.08586
17 / 198
Luhya, Kenya
0.44286
93 / 210
Southern Han
0.25980
53 / 204
Tamil
0.17647
30 / 170
Mende
0.17593
38 / 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.