TTN : c.26762-14_26762-10dupTTTGT

TTN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.26762-14_26762-10dupTTTGTinsertionsplice site chr2:0-179578109 (reverse strand)0.14286640

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.14286640 (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
ExAC0.11708022
972 / 8302		0.19074599
404 / 2118		0.43518519
235 / 540		0.10133929
227 / 2240		0.30512821
119 / 390		0.12918660
216 / 1672		0.18604651
32 / 172		0.14286640
2205 / 15434
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.20025
161 / 804		 0.30366
382 / 1258		 0.52508
513 / 977		 0.45957
449 / 977		 0.35217
243 / 690		 0.16327
32 / 196		 0.36312
1780 / 4902
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.25000
45 / 180
British
0.29310
34 / 116
African-American
0.61667
111 / 180
Chinese Dai
0.49123
84 / 171
Bengali
0.33511
63 / 188
Colombian
0.18224
39 / 214
Iberian
0.26776
49 / 183
African-Caribbean
0.47525
96 / 202
Han, Beijing
0.40291
83 / 206
Gujarati Indian
0.33858
43 / 127
Mexican, LA
0.21596
46 / 213
Toscani
0.30159
57 / 189
Esan, Nigeria
0.45274
91 / 201
Japanese
0.48529
99 / 204
Indian Telugu
0.47647
81 / 170
Peruvian
0.15736
31 / 197
Utah Europeans
0.35681
76 / 213
Gambian
0.56545
108 / 191
Kinh, Vietnam
0.43750
84 / 192
Punjabi, Lahore
0.27317
56 / 205
Puerto Rican
0.27749
53 / 191
Luhya, Kenya
0.52709
107 / 203
Southern Han
0.48529
99 / 204
Tamil
0.33962
54 / 159
Mende
0.28502
59 / 207
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.