TRDN : c.383C>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.383C>G	p.T128S (Thr > Ser)	substitution	missense	chr6:123869607 (reverse strand)	0.49255762

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.49255762 (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	0.56075167 23574 / 42040	0.54238466 3903 / 7196	0.10140897 547 / 5394	0.44804490 4950 / 11048	0.30524079 1724 / 5648	0.58862434 2670 / 4536	0.48986486 290 / 592	0.49255762 37658 / 76454
ESP	0.53747 4418 / 8220	0.54947 2066 / 3760						0.54124 6484 / 11980
1KG	0.51856 419 / 808	0.53631 709 / 1322	0.08135 82 / 1008	0.41922 410 / 978	0.33718 234 / 694	0.57576 114 / 198		0.39297 1968 / 5008

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

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

0.43956 80 / 182 British	0.47541 58 / 122 African-American	0.12903 24 / 186 Chinese Dai	0.36628 63 / 172 Bengali	0.43085 81 / 188 Colombian
0.58411 125 / 214 Iberian	0.54167 104 / 192 African-Caribbean	0.07282 15 / 206 Han, Beijing	0.45146 93 / 206 Gujarati Indian	0.24219 31 / 128 Mexican, LA
0.53271 114 / 214 Toscani	0.58081 115 / 198 Esan, Nigeria	0.07692 16 / 208 Japanese	0.38725 79 / 204 Indian Telugu	0.15882 27 / 170 Peruvian
0.50505 100 / 198 Utah Europeans	0.51327 116 / 226 Gambian	0.04040 8 / 198 Kinh, Vietnam	0.42708 82 / 192 Punjabi, Lahore	0.45673 95 / 208 Puerto Rican
	0.46465 92 / 198 Luhya, Kenya	0.09048 19 / 210 Southern Han	0.45588 93 / 204 Tamil
	0.57059 97 / 170 Mende
	0.58796 127 / 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 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	moderately 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.