CETP : c.1403G>A

CETP gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1403G>Ap.R468Q (Arg > Gln)substitutionmissense chr16:57017319 (forward strand)0.03525002

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.03525002 (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
ExAC0.03360110
2242 / 66724		0.00653595
68 / 10404		0.00069332
6 / 8654		0.03330911
550 / 16512		0.10903750
1262 / 11574		0.01784094
118 / 6614		0.03634361
33 / 908		0.03525002
4279 / 121390
ESP 0.03884
334 / 8600		 0.00842
37 / 4396		 0.02855
371 / 12996
1KG
 0.04332
35 / 808		 0.00303
4 / 1322		 0.00000
0 / 1008		 0.02761
27 / 978		 0.08790
61 / 694		 0.02525
5 / 198		 0.02636
132 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.04945
9 / 182
British
0.02459
3 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.01744
3 / 172
Bengali
0.06383
12 / 188
Colombian
0.00935
2 / 214
Iberian
0.00521
1 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.02913
6 / 206
Gujarati Indian
0.07812
10 / 128
Mexican, LA
0.05607
12 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.01961
4 / 204
Indian Telugu
0.17059
29 / 170
Peruvian
0.06061
12 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.06250
12 / 192
Punjabi, Lahore
0.04808
10 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00980
2 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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 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.