CCT6A : c.686A>G

CCT6A gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.686A>Gp.Y229C (Tyr > Cys)substitutionmissense chr7:56125757 (forward strand)0.03602408

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.03602408 (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
ExAC0.01894121
1263 / 66680		0.06703212
697 / 10398		0.03847932
333 / 8654		0.04539944
749 / 16498		0.10844313
1251 / 11536		0.00650726
43 / 6608		0.03642384
33 / 906		0.03602408
4369 / 121280
ESP 0.01930
166 / 8600		 0.06468
285 / 4406		 0.03468
451 / 13006
1KG
 0.03589
29 / 808		 0.07337
97 / 1322		 0.03274
33 / 1008		 0.04601
45 / 978		 0.05764
40 / 694		 0.01010
2 / 198		 0.04912
246 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.06044
11 / 182
British
0.04918
6 / 122
African-American
0.01075
2 / 186
Chinese Dai
0.04651
8 / 172
Bengali
0.01596
3 / 188
Colombian
0.03738
8 / 214
Iberian
0.06250
12 / 192
African-Caribbean
0.02913
6 / 206
Han, Beijing
0.02427
5 / 206
Gujarati Indian
0.05469
7 / 128
Mexican, LA
0.03738
8 / 214
Toscani
0.05051
10 / 198
Esan, Nigeria
0.07692
16 / 208
Japanese
0.03922
8 / 204
Indian Telugu
0.12941
22 / 170
Peruvian
0.01010
2 / 198
Utah Europeans
0.08407
19 / 226
Gambian
0.02020
4 / 198
Kinh, Vietnam
0.03125
6 / 192
Punjabi, Lahore
0.03846
8 / 208
Puerto Rican
0.08081
16 / 198
Luhya, Kenya
0.02381
5 / 210
Southern Han
0.08824
18 / 204
Tamil
0.09412
16 / 170
Mende
0.08333
18 / 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 ENST00000275603 NM_001762.3
Protein ENSP00000275603 P40227

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
50% of algorithms have predicted that this variant will adversely affect protein function
tolerated radical benign benign
LRT MutationTaster MutationAssessor FATHMM
deleterious disease-causing medium 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.