TRDN : c.1188A>G

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1188A>G	p.K396K	substitution	splice site	chr6:123699042 (reverse strand)	0.34231166

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.34231166 (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	0.43109021 5868 / 13612	0.37918746 1064 / 2806	0.16666667 139 / 834	0.19672897 1684 / 8560	0.47363083 467 / 986	0.32006048 635 / 1984	0.32638889 94 / 288	0.34231166 9951 / 29070
ESP	0.36352 2890 / 7950	0.33362 1161 / 3480						0.35442 4051 / 11430
1KG	0.38985 315 / 808	0.34342 454 / 1322	0.10119 102 / 1008	0.14519 142 / 978	0.42507 295 / 694	0.27778 55 / 198		0.27216 1363 / 5008

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

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

0.39560 72 / 182 British	0.32787 40 / 122 African-American	0.09677 18 / 186 Chinese Dai	0.16279 28 / 172 Bengali	0.42021 79 / 188 Colombian
0.40187 86 / 214 Iberian	0.37500 72 / 192 African-Caribbean	0.08252 17 / 206 Han, Beijing	0.13592 28 / 206 Gujarati Indian	0.38281 49 / 128 Mexican, LA
0.42523 91 / 214 Toscani	0.30808 61 / 198 Esan, Nigeria	0.11538 24 / 208 Japanese	0.11275 23 / 204 Indian Telugu	0.44706 76 / 170 Peruvian
0.33333 66 / 198 Utah Europeans	0.34513 78 / 226 Gambian	0.11111 22 / 198 Kinh, Vietnam	0.21354 41 / 192 Punjabi, Lahore	0.43750 91 / 208 Puerto Rican
	0.34848 69 / 198 Luhya, Kenya	0.10000 21 / 210 Southern Han	0.10784 22 / 204 Tamil
	0.39412 67 / 170 Mende
	0.31019 67 / 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

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.