TTN : c.4480+6C>T

TTN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.4480+6C>Tsubstitutionsplice site chr2:179642425 (reverse strand)0.95877028

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.95877028 (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
ExAC0.98901247
65979 / 66712		0.85068309
8842 / 10394		0.87572590
7540 / 8610		0.95832829
15822 / 16510		0.93083449
10753 / 11552		0.98093797
6484 / 6610		0.96365639
875 / 908		0.95877028
116295 / 121296
ESP 0.99140
8526 / 8600		 0.85883
3784 / 4406		 0.94649
12310 / 13006
1KG
 0.99381
803 / 808		 0.81846
1082 / 1322		 0.88294
890 / 1008		 0.95910
938 / 978		 0.94669
657 / 694		 0.98485
195 / 198		 0.91154
4565 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.98901
180 / 182
British
0.86885
106 / 122
African-American
0.91398
170 / 186
Chinese Dai
0.94767
163 / 172
Bengali
0.95213
179 / 188
Colombian
0.99533
213 / 214
Iberian
0.81250
156 / 192
African-Caribbean
0.89806
185 / 206
Han, Beijing
0.97573
201 / 206
Gujarati Indian
0.91406
117 / 128
Mexican, LA
0.99065
212 / 214
Toscani
0.76768
152 / 198
Esan, Nigeria
0.81250
169 / 208
Japanese
0.95588
195 / 204
Indian Telugu
0.95882
163 / 170
Peruvian
1.00000
198 / 198
Utah Europeans
0.84956
192 / 226
Gambian
0.88384
175 / 198
Kinh, Vietnam
0.94792
182 / 192
Punjabi, Lahore
0.95192
198 / 208
Puerto Rican
0.81818
162 / 198
Luhya, Kenya
0.90952
191 / 210
Southern Han
0.96569
197 / 204
Tamil
0.82941
141 / 170
Mende
0.80093
173 / 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.