TNRC18 : c.5218G>C

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.5218G>C	p.E1740Q (Glu > Gln)	substitution	missense	chr7:5391702 (reverse strand)	0.19363033

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.19363033 (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
ExAC	0.18613562 11562 / 62116	0.26743150 2401 / 8978	0.05409505 428 / 7912	0.23349147 3642 / 15598	0.19249857 2017 / 10478	0.23674121 1482 / 6260	0.22576832 191 / 846	0.19363033 21723 / 112188
ESP	0.16904 1211 / 7164	0.24841 779 / 3136						0.19320 1990 / 10300
1KG	0.21411 173 / 808	0.25265 334 / 1322	0.06250 63 / 1008	0.21370 209 / 978	0.18444 128 / 694	0.21717 43 / 198		0.18970 950 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.19231 35 / 182 British	0.24590 30 / 122 African-American	0.06989 13 / 186 Chinese Dai	0.21512 37 / 172 Bengali	0.18617 35 / 188 Colombian
0.20561 44 / 214 Iberian	0.24479 47 / 192 African-Caribbean	0.03398 7 / 206 Han, Beijing	0.29612 61 / 206 Gujarati Indian	0.19531 25 / 128 Mexican, LA
0.23364 50 / 214 Toscani	0.26768 53 / 198 Esan, Nigeria	0.08173 17 / 208 Japanese	0.22549 46 / 204 Indian Telugu	0.21765 37 / 170 Peruvian
0.22222 44 / 198 Utah Europeans	0.21681 49 / 226 Gambian	0.07071 14 / 198 Kinh, Vietnam	0.19792 38 / 192 Punjabi, Lahore	0.14904 31 / 208 Puerto Rican
	0.20707 41 / 198 Luhya, Kenya	0.05714 12 / 210 Southern Han	0.13235 27 / 204 Tamil
	0.22941 39 / 170 Mende
	0.34722 75 / 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	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.