CETP : c.1264G>A

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1264G>A	p.V422I (Val > Ile)	substitution	missense	chr16:57016092 (forward strand)	0.61647629

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.61647629 (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	0.67757892 45204 / 66714	0.41243752 4291 / 10404	0.54807692 4731 / 8632	0.56474079 9325 / 16512	0.56535270 6540 / 11568	0.62689279 4140 / 6604	0.63163717 571 / 904	0.61647629 74802 / 121338
ESP	0.68139 5860 / 8600	0.41469 1823 / 4396						0.59118 7683 / 12996
1KG	0.67450 545 / 808	0.36233 479 / 1322	0.56349 568 / 1008	0.55010 538 / 978	0.59942 416 / 694	0.64646 128 / 198		0.53395 2674 / 5008

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

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

0.70330 128 / 182 British	0.45082 55 / 122 African-American	0.65054 121 / 186 Chinese Dai	0.55814 96 / 172 Bengali	0.69681 131 / 188 Colombian
0.69159 148 / 214 Iberian	0.38542 74 / 192 African-Caribbean	0.52427 108 / 206 Han, Beijing	0.59223 122 / 206 Gujarati Indian	0.55469 71 / 128 Mexican, LA
0.66355 142 / 214 Toscani	0.31313 62 / 198 Esan, Nigeria	0.47115 98 / 208 Japanese	0.47059 96 / 204 Indian Telugu	0.50000 85 / 170 Peruvian
0.64141 127 / 198 Utah Europeans	0.35398 80 / 226 Gambian	0.61616 122 / 198 Kinh, Vietnam	0.57292 110 / 192 Punjabi, Lahore	0.62019 129 / 208 Puerto Rican
	0.34343 68 / 198 Luhya, Kenya	0.56667 119 / 210 Southern Han	0.55882 114 / 204 Tamil
	0.41176 70 / 170 Mende
	0.32407 70 / 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

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	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.