TRDN : c.1211T>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1211T>G	p.V404G (Val > Gly)	substitution	missense	chr6:123699019 (reverse strand)	0.20036793

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.20036793 (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	0.18314105 4921 / 26870	0.23646497 1188 / 5024	0.10250000 287 / 2800	0.25696706 2840 / 11052	0.12526690 352 / 2810	0.23961144 888 / 3706	0.19098712 89 / 466	0.20036793 10565 / 52728
ESP	0.14543 1178 / 8100	0.18901 671 / 3550						0.15871 1849 / 11650
1KG	0.16832 136 / 808	0.20877 276 / 1322	0.10417 105 / 1008	0.22904 224 / 978	0.09798 68 / 694	0.19192 38 / 198		0.16913 847 / 5008

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

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

0.19231 35 / 182 British	0.23770 29 / 122 African-American	0.16129 30 / 186 Chinese Dai	0.28488 49 / 172 Bengali	0.08511 16 / 188 Colombian
0.15421 33 / 214 Iberian	0.22917 44 / 192 African-Caribbean	0.10680 22 / 206 Han, Beijing	0.21359 44 / 206 Gujarati Indian	0.10156 13 / 128 Mexican, LA
0.10748 23 / 214 Toscani	0.22222 44 / 198 Esan, Nigeria	0.05288 11 / 208 Japanese	0.26961 55 / 204 Indian Telugu	0.07647 13 / 170 Peruvian
0.22727 45 / 198 Utah Europeans	0.13717 31 / 226 Gambian	0.11111 22 / 198 Kinh, Vietnam	0.17708 34 / 192 Punjabi, Lahore	0.12500 26 / 208 Puerto Rican
	0.17172 34 / 198 Luhya, Kenya	0.09524 20 / 210 Southern Han	0.20588 42 / 204 Tamil
	0.20588 35 / 170 Mende
	0.27315 59 / 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	ENST00000398178		NM_006073.2
Protein	ENSP00000381240			Q13061

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated	moderately radical	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.