CETP : c.1168G>C

CETP gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1168G>Cp.A390P (Ala > Pro)substitutionmissense chr16:57015091 (forward strand)0.05084704

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.05084704 (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
ExAC0.04826718
3220 / 66712		0.00884786
92 / 10398		0.00555042
48 / 8648		0.07838624
1294 / 16508		0.11316517
1310 / 11576		0.02403992
159 / 6614		0.05286344
48 / 908		0.05084704
6171 / 121364
ESP 0.05233
450 / 8600		 0.01069
47 / 4396		 0.03824
497 / 12996
1KG
 0.05446
44 / 808		 0.00378
5 / 1322		 0.00893
9 / 1008		 0.08282
81 / 978		 0.09078
63 / 694		 0.04040
8 / 198		 0.04193
210 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.06593
12 / 182
British
0.02459
3 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.06977
12 / 172
Bengali
0.06383
12 / 188
Colombian
0.01402
3 / 214
Iberian
0.01042
2 / 192
African-Caribbean
0.00485
1 / 206
Han, Beijing
0.10680
22 / 206
Gujarati Indian
0.07812
10 / 128
Mexican, LA
0.07477
16 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.04902
10 / 204
Indian Telugu
0.18235
31 / 170
Peruvian
0.06566
13 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.02525
5 / 198
Kinh, Vietnam
0.11979
23 / 192
Punjabi, Lahore
0.04808
10 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.01429
3 / 210
Southern Han
0.06863
14 / 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
37.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative probably damaging probably damaging
LRT MutationTaster MutationAssessor FATHMM
unknown disease-causing low impact 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.