TTN : c.67635T>C

TTN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.67635T>Cp.V22545Vsubstitutionsplice site chr2:179444289 (reverse strand)0.03054708

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.03054708 (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
ExAC0.02691108
1794 / 66664		0.00388469
38 / 9782		0.06536483
559 / 8552		0.02998546
495 / 16508		0.03662338
423 / 11550		0.05323654
352 / 6612		0.02444444
22 / 900		0.03054708
3683 / 120568
ESP 0.02255
187 / 8294		 0.00612
24 / 3920		 0.01727
211 / 12214
1KG
 0.02351
19 / 808		 0.00076
1 / 1322		 0.06052
61 / 1008		 0.03374
33 / 978		 0.02594
18 / 694		 0.05051
10 / 198		 0.02835
142 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.01648
3 / 182
British
0.00000
0 / 122
African-American
0.05376
10 / 186
Chinese Dai
0.04651
8 / 172
Bengali
0.00000
0 / 188
Colombian
0.01869
4 / 214
Iberian
0.00521
1 / 192
African-Caribbean
0.06311
13 / 206
Han, Beijing
0.00971
2 / 206
Gujarati Indian
0.03125
4 / 128
Mexican, LA
0.02336
5 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.05288
11 / 208
Japanese
0.02941
6 / 204
Indian Telugu
0.06471
11 / 170
Peruvian
0.03535
7 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.05051
10 / 198
Kinh, Vietnam
0.06771
13 / 192
Punjabi, Lahore
0.01442
3 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.08095
17 / 210
Southern Han
0.01961
4 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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.