PLEC : c.2538+6C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.2538+6C>T		substitution	splice site	chr8:145004546 (reverse strand)	0.74105551

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.74105551 (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	0.83039789 25837 / 31114	0.44684211 1698 / 3800	0.66580460 2317 / 3480	0.62827177 6769 / 10774	0.66789668 2534 / 3794	0.80012531 1277 / 1596	0.73724490 289 / 392	0.74105551 40721 / 54950
ESP	0.81856 6799 / 8306	0.45370 1842 / 4060						0.69877 8641 / 12366
1KG	0.81436 658 / 808	0.33283 440 / 1322	0.60317 608 / 1008	0.59611 583 / 978	0.62392 433 / 694	0.71717 142 / 198		0.57188 2864 / 5008

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

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

0.82967 151 / 182 British	0.44262 54 / 122 African-American	0.61828 115 / 186 Chinese Dai	0.59884 103 / 172 Bengali	0.66489 125 / 188 Colombian
0.79907 171 / 214 Iberian	0.35938 69 / 192 African-Caribbean	0.63592 131 / 206 Han, Beijing	0.50000 103 / 206 Gujarati Indian	0.65625 84 / 128 Mexican, LA
0.80841 173 / 214 Toscani	0.29798 59 / 198 Esan, Nigeria	0.64904 135 / 208 Japanese	0.63235 129 / 204 Indian Telugu	0.50588 86 / 170 Peruvian
0.82323 163 / 198 Utah Europeans	0.35841 81 / 226 Gambian	0.52020 103 / 198 Kinh, Vietnam	0.65104 125 / 192 Punjabi, Lahore	0.66346 138 / 208 Puerto Rican
	0.40404 80 / 198 Luhya, Kenya	0.59048 124 / 210 Southern Han	0.60294 123 / 204 Tamil
	0.27059 46 / 170 Mende
	0.23611 51 / 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	ENST00000436759		NM_000445.3
Protein	ENSP00000388180

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.