TRDN : c.1313T>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1313T>G	p.I438S (Ile > Ser)	substitution	missense	chr6:123687288 (reverse strand)	0.92397194

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.92397194 (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	0.91056923 60531 / 66476	0.95019431 9291 / 9778	0.91581276 7865 / 8588	0.93913255 15460 / 16462	0.96756851 11158 / 11532	0.91595874 6038 / 6592	0.92968750 833 / 896	0.92397194 111176 / 120324
ESP	0.91562 7466 / 8154	0.94779 3431 / 3620						0.92551 10897 / 11774
1KG	0.92079 744 / 808	0.96445 1275 / 1322	0.99357 927 / 933	0.94039 915 / 973	0.95101 660 / 694	0.92424 183 / 198		0.95455 4704 / 4928

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

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

0.90110 164 / 182 British	0.99180 121 / 122 African-American	0.99412 169 / 170 Chinese Dai	0.93605 161 / 172 Bengali	0.94681 178 / 188 Colombian
0.92991 199 / 214 Iberian	0.95833 184 / 192 African-Caribbean	0.98958 190 / 192 Han, Beijing	0.93171 191 / 205 Gujarati Indian	0.94531 121 / 128 Mexican, LA
0.94393 202 / 214 Toscani	0.91919 182 / 198 Esan, Nigeria	0.98947 188 / 190 Japanese	0.95567 194 / 203 Indian Telugu	0.97059 165 / 170 Peruvian
0.90404 179 / 198 Utah Europeans	0.98230 222 / 226 Gambian	0.99454 182 / 183 Kinh, Vietnam	0.94271 181 / 192 Punjabi, Lahore	0.94231 196 / 208 Puerto Rican
	0.97980 194 / 198 Luhya, Kenya	1.00000 198 / 198 Southern Han	0.93532 188 / 201 Tamil
	0.97059 165 / 170 Mende
	0.95833 207 / 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.