TRIM55 : c.1028A>G

TRIM55 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1028A>Gp.K343R (Lys > Arg)substitutionmissense chr8:67064654 (forward strand)0.14103252

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.14103252 (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
ExAC0.10761026
5690 / 52876		0.61457049
5981 / 9732		0.00016041
1 / 6234		0.04529667
626 / 13820		0.08744175
713 / 8154		0.10537037
569 / 5400		0.12640449
90 / 712		0.14103252
13670 / 96928
ESP 0.09593
825 / 8600		 0.58398
2573 / 4406		 0.26126
3398 / 13006
1KG
 0.09282
75 / 808		 0.66641
881 / 1322		 0.00000
0 / 1008		 0.03374
33 / 978		 0.09078
63 / 694		 0.08586
17 / 198		 0.21346
1069 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.12088
22 / 182
British
0.53279
65 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.04070
7 / 172
Bengali
0.08511
16 / 188
Colombian
0.10280
22 / 214
Iberian
0.64062
123 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.03398
7 / 206
Gujarati Indian
0.08594
11 / 128
Mexican, LA
0.06542
14 / 214
Toscani
0.70707
140 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.03431
7 / 204
Indian Telugu
0.03529
6 / 170
Peruvian
0.08586
17 / 198
Utah Europeans
0.66372
150 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.04167
8 / 192
Punjabi, Lahore
0.14423
30 / 208
Puerto Rican
0.71717
142 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.01961
4 / 204
Tamil
0.71176
121 / 170
Mende
0.64815
140 / 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 ENST00000315962 NM_184085.1
Protein ENSP00000323913 Q9BYV6

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated 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.