TNRC18 : c.5026A>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.5026A>G	p.N1676D (Asn > Asp)	substitution	missense	chr7:5396715 (reverse strand)	0.43083499

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.43083499 (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	0.43367865 4270 / 9846	0.48562975 1149 / 2366	0.17656250 113 / 640	0.40422037 3199 / 7914	0.34669811 147 / 424	0.57242178 988 / 1726	0.45934959 113 / 246	0.43083499 9979 / 23162
ESP	0.46417 1477 / 3182	0.49061 679 / 1384						0.47219 2156 / 4566
1KG	0.46287 374 / 808	0.49395 653 / 1322	0.15972 161 / 1008	0.35787 350 / 978	0.31556 219 / 694	0.54545 108 / 198		0.37240 1865 / 5008

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

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

0.44505 81 / 182 British	0.41803 51 / 122 African-American	0.20968 39 / 186 Chinese Dai	0.34302 59 / 172 Bengali	0.36702 69 / 188 Colombian
0.42056 90 / 214 Iberian	0.50521 97 / 192 African-Caribbean	0.16505 34 / 206 Han, Beijing	0.42233 87 / 206 Gujarati Indian	0.33594 43 / 128 Mexican, LA
0.50935 109 / 214 Toscani	0.46970 93 / 198 Esan, Nigeria	0.13942 29 / 208 Japanese	0.31863 65 / 204 Indian Telugu	0.18824 32 / 170 Peruvian
0.47475 94 / 198 Utah Europeans	0.53097 120 / 226 Gambian	0.17677 35 / 198 Kinh, Vietnam	0.40104 77 / 192 Punjabi, Lahore	0.36058 75 / 208 Puerto Rican
	0.52020 103 / 198 Luhya, Kenya	0.11429 24 / 210 Southern Han	0.30392 62 / 204 Tamil
	0.51765 88 / 170 Mende
	0.46759 101 / 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)	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.