CETP : c.658+8C>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.658+8C>T		substitution	splice site	chr16:57005301 (forward strand)	0.39590269

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.39590269 (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	0.42809821 28561 / 66716	0.14718906 1529 / 10388	0.29555453 2553 / 8638	0.47734706 7881 / 16510	0.38743953 4485 / 11576	0.40520109 2680 / 6614	0.38962472 353 / 906	0.39590269 48042 / 121348
ESP	0.42721 3674 / 8600	0.15491 681 / 4396						0.33510 4355 / 12996
1KG	0.42822 346 / 808	0.10439 138 / 1322	0.29067 293 / 1008	0.47955 469 / 978	0.34294 238 / 694	0.42424 84 / 198		0.31310 1568 / 5008

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

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

0.42857 78 / 182 British	0.15574 19 / 122 African-American	0.25806 48 / 186 Chinese Dai	0.42442 73 / 172 Bengali	0.30319 57 / 188 Colombian
0.41589 89 / 214 Iberian	0.14583 28 / 192 African-Caribbean	0.32524 67 / 206 Han, Beijing	0.54369 112 / 206 Gujarati Indian	0.39844 51 / 128 Mexican, LA
0.41589 89 / 214 Toscani	0.11111 22 / 198 Esan, Nigeria	0.28365 59 / 208 Japanese	0.52451 107 / 204 Indian Telugu	0.36471 62 / 170 Peruvian
0.45455 90 / 198 Utah Europeans	0.12389 28 / 226 Gambian	0.25253 50 / 198 Kinh, Vietnam	0.45833 88 / 192 Punjabi, Lahore	0.32692 68 / 208 Puerto Rican
	0.06566 13 / 198 Luhya, Kenya	0.32857 69 / 210 Southern Han	0.43627 89 / 204 Tamil
	0.08824 15 / 170 Mende
	0.06019 13 / 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	ENST00000200676		NM_000078.2
Protein	ENSP00000200676			P11597

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.