TNRC18 : c.7178C>T

TNRC18 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.7178C>Tp.P2393L (Pro > Leu)substitutionmissense chr7:5353344 (reverse strand)0.11866149

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.11866149 (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
ExAC0.11531870
6325 / 54848		0.08056872
544 / 6752		0.06044102
455 / 7528		0.09355913
1011 / 10806		0.24603820
2422 / 9844		0.10049020
492 / 4896		0.09603659
63 / 656		0.11866149
11312 / 95330
ESP 0.10700
764 / 7140		 0.06250
195 / 3120		 0.09347
959 / 10260
1KG
 0.10520
85 / 808		 0.06051
80 / 1322		 0.06052
61 / 1008		 0.08282
81 / 978		 0.17579
122 / 694		 0.10101
20 / 198		 0.08966
449 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.10989
20 / 182
British
0.09016
11 / 122
African-American
0.03763
7 / 186
Chinese Dai
0.13953
24 / 172
Bengali
0.11170
21 / 188
Colombian
0.08411
18 / 214
Iberian
0.08854
17 / 192
African-Caribbean
0.03398
7 / 206
Han, Beijing
0.08252
17 / 206
Gujarati Indian
0.21094
27 / 128
Mexican, LA
0.08411
18 / 214
Toscani
0.06566
13 / 198
Esan, Nigeria
0.04808
10 / 208
Japanese
0.04902
10 / 204
Indian Telugu
0.30000
51 / 170
Peruvian
0.14646
29 / 198
Utah Europeans
0.03982
9 / 226
Gambian
0.08586
17 / 198
Kinh, Vietnam
0.08854
17 / 192
Punjabi, Lahore
0.11058
23 / 208
Puerto Rican
0.04545
9 / 198
Luhya, Kenya
0.09524
20 / 210
Southern Han
0.06373
13 / 204
Tamil
0.04706
8 / 170
Mende
0.06019
13 / 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 ENST00000430969 NM_001080495.2
Protein ENSP00000395538 O15417

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) low impact 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.