TTN : c.23099-3T>C

TTN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.23099-3T>Csubstitutionsplice site chr2:179585393 (reverse strand)0.32315554

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.32315554 (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
ExAC0.21235292
12886 / 60682		0.48361019
4367 / 9030		0.67413620
5385 / 7988		0.47572453
6369 / 13388		0.43146789
4703 / 10900		0.20948060
1339 / 6392		0.29187192
237 / 812		0.32315554
35286 / 109192
ESP 0.19848
1614 / 8132		 0.46757
1701 / 3638		 0.28165
3315 / 11770
1KG
 0.22649
183 / 808		 0.51286
678 / 1322		 0.65972
665 / 1008		 0.47342
463 / 978		 0.39193
272 / 694		 0.21717
43 / 198		 0.46006
2304 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.26374
48 / 182
British
0.46721
57 / 122
African-American
0.70430
131 / 186
Chinese Dai
0.52326
90 / 172
Bengali
0.36170
68 / 188
Colombian
0.21495
46 / 214
Iberian
0.50521
97 / 192
African-Caribbean
0.62621
129 / 206
Han, Beijing
0.41262
85 / 206
Gujarati Indian
0.36719
47 / 128
Mexican, LA
0.23364
50 / 214
Toscani
0.56566
112 / 198
Esan, Nigeria
0.59615
124 / 208
Japanese
0.48529
99 / 204
Indian Telugu
0.52353
89 / 170
Peruvian
0.19697
39 / 198
Utah Europeans
0.55310
125 / 226
Gambian
0.67172
133 / 198
Kinh, Vietnam
0.45833
88 / 192
Punjabi, Lahore
0.32692
68 / 208
Puerto Rican
0.42929
85 / 198
Luhya, Kenya
0.70476
148 / 210
Southern Han
0.49510
101 / 204
Tamil
0.51765
88 / 170
Mende
0.52778
114 / 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.