TRIM63 : c.709A>G

TRIM63 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.709A>Gp.K237E (Lys > Glu)substitutionmissense chr1:26385003 (reverse strand)0.19212326

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.19212326 (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
ExAC0.21952170
14650 / 66736		0.27057692
2814 / 10400		0.19369056
1670 / 8622		0.10616521
1753 / 16512		0.08507514
985 / 11578		0.19594799
1296 / 6614		0.16519824
150 / 908		0.19212326
23318 / 121370
ESP 0.21651
1862 / 8600		 0.27122
1195 / 4406		 0.23504
3057 / 13006
1KG
 0.22401
181 / 808		 0.26702
353 / 1322		 0.17063
172 / 1008		 0.08384
82 / 978		 0.12392
86 / 694		 0.19697
39 / 198		 0.18231
913 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.17582
32 / 182
British
0.18033
22 / 122
African-American
0.15591
29 / 186
Chinese Dai
0.08721
15 / 172
Bengali
0.10106
19 / 188
Colombian
0.20561
44 / 214
Iberian
0.25000
48 / 192
African-Caribbean
0.19417
40 / 206
Han, Beijing
0.08252
17 / 206
Gujarati Indian
0.07812
10 / 128
Mexican, LA
0.28037
60 / 214
Toscani
0.26768
53 / 198
Esan, Nigeria
0.11538
24 / 208
Japanese
0.05392
11 / 204
Indian Telugu
0.04118
7 / 170
Peruvian
0.22727
45 / 198
Utah Europeans
0.26549
60 / 226
Gambian
0.15152
30 / 198
Kinh, Vietnam
0.14583
28 / 192
Punjabi, Lahore
0.24038
50 / 208
Puerto Rican
0.33333
66 / 198
Luhya, Kenya
0.23333
49 / 210
Southern Han
0.05392
11 / 204
Tamil
0.35294
60 / 170
Mende
0.20370
44 / 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 ENST00000374272 NM_032588.3
Protein ENSP00000363390 Q969Q1

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) neutral tolerated


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.