TRIM54 : c.969+7T>C

TRIM54 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.969+7T>Csubstitutionsplice site chr2:27528692 (forward strand)0.41236150

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.41236150 (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
ExAC0.32222361
10306 / 31984		0.81404566
5135 / 6308		0.20460048
676 / 3304		0.42863930
4511 / 10524		0.60706278
3249 / 5352		0.33299697
660 / 1982		0.36919831
175 / 474		0.41236150
24712 / 59928
ESP 0.26169
2250 / 8598		 0.77611
3418 / 4404		 0.43593
5668 / 13002
1KG
 0.24381
197 / 808		 0.89259
1180 / 1322		 0.16171
163 / 1008		 0.41309
404 / 978		 0.45965
319 / 694		 0.26768
53 / 198		 0.46246
2316 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.18681
34 / 182
British
0.82787
101 / 122
African-American
0.19355
36 / 186
Chinese Dai
0.43023
74 / 172
Bengali
0.33511
63 / 188
Colombian
0.27103
58 / 214
Iberian
0.84896
163 / 192
African-Caribbean
0.12136
25 / 206
Han, Beijing
0.39806
82 / 206
Gujarati Indian
0.53125
68 / 128
Mexican, LA
0.23364
50 / 214
Toscani
0.89394
177 / 198
Esan, Nigeria
0.10096
21 / 208
Japanese
0.47059
96 / 204
Indian Telugu
0.58824
100 / 170
Peruvian
0.27778
55 / 198
Utah Europeans
0.92035
208 / 226
Gambian
0.23737
47 / 198
Kinh, Vietnam
0.33854
65 / 192
Punjabi, Lahore
0.42308
88 / 208
Puerto Rican
0.93434
185 / 198
Luhya, Kenya
0.16190
34 / 210
Southern Han
0.42647
87 / 204
Tamil
0.90000
153 / 170
Mende
0.89352
193 / 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 ENST00000296098 NM_032546.3
Protein ENSP00000296098



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.