TRDN : c.1370-11C>A

TRDN gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1370-11C>Asubstitutionsplice site chr6:123658825 (reverse strand)0.27490138

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.27490138 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.19113441
1604 / 8392		0.10030706
196 / 1954		0.57432432
340 / 592		0.37651976
2973 / 7896		0.28894472
115 / 398		0.34515366
292 / 846		0.27227723
55 / 202		0.27490138
5575 / 20280
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.15347
124 / 808		 0.06884
91 / 1322		 0.61111
616 / 1008		 0.42536
416 / 978		 0.24496
170 / 694		 0.27273
54 / 198		 0.29373
1471 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.12088
22 / 182
British
0.08197
10 / 122
African-American
0.51075
95 / 186
Chinese Dai
0.37209
64 / 172
Bengali
0.22872
43 / 188
Colombian
0.13551
29 / 214
Iberian
0.07292
14 / 192
African-Caribbean
0.63107
130 / 206
Han, Beijing
0.41262
85 / 206
Gujarati Indian
0.28125
36 / 128
Mexican, LA
0.18692
40 / 214
Toscani
0.07576
15 / 198
Esan, Nigeria
0.73077
152 / 208
Japanese
0.46569
95 / 204
Indian Telugu
0.31765
54 / 170
Peruvian
0.16667
33 / 198
Utah Europeans
0.05752
13 / 226
Gambian
0.53030
105 / 198
Kinh, Vietnam
0.40104
77 / 192
Punjabi, Lahore
0.17788
37 / 208
Puerto Rican
0.08586
17 / 198
Luhya, Kenya
0.63810
134 / 210
Southern Han
0.46569
95 / 204
Tamil
0.06471
11 / 170
Mende
0.05093
11 / 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 ENST00000398178 NM_006073.2
Protein ENSP00000381240 Q13061



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.