TNRC18 : c.7573C>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.7573C>G	p.L2525V (Leu > Val)	substitution	missense	chr7:5352949 (reverse strand)	0.13394670

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.13394670 (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	0.13592064 781 / 5746	0.09430255 96 / 1018	0.19787234 93 / 470	0.12219959 960 / 7856	0.32272727 142 / 440	0.25000000 14 / 56	0.14367816 25 / 174	0.13394670 2111 / 15760
ESP	0.09391 598 / 6368	0.06706 182 / 2714						0.08588 780 / 9082
1KG	0.11386 92 / 808	0.09228 122 / 1322	0.14683 148 / 1008	0.12168 119 / 978	0.27522 191 / 694	0.11111 22 / 198		0.13858 694 / 5008

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

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

0.11538 21 / 182 British	0.11475 14 / 122 African-American	0.14516 27 / 186 Chinese Dai	0.16860 29 / 172 Bengali	0.16489 31 / 188 Colombian
0.09813 21 / 214 Iberian	0.11458 22 / 192 African-Caribbean	0.12621 26 / 206 Han, Beijing	0.12621 26 / 206 Gujarati Indian	0.34375 44 / 128 Mexican, LA
0.09346 20 / 214 Toscani	0.06566 13 / 198 Esan, Nigeria	0.10577 22 / 208 Japanese	0.06373 13 / 204 Indian Telugu	0.48824 83 / 170 Peruvian
0.15152 30 / 198 Utah Europeans	0.07522 17 / 226 Gambian	0.17677 35 / 198 Kinh, Vietnam	0.14062 27 / 192 Punjabi, Lahore	0.15865 33 / 208 Puerto Rican
	0.09596 19 / 198 Luhya, Kenya	0.18095 38 / 210 Southern Han	0.11765 24 / 204 Tamil
	0.09412 16 / 170 Mende
	0.09722 21 / 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 25% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	possibly damaging	possibly damaging
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.