CCT6A : c.202-4A>T

CCT6A gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.202-4A>Tsubstitutionsplice site chr7:56122058 (forward strand)0.68365998

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.68365998 (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
ExAC0.70129948
46736 / 66642		0.59895525
6077 / 10146		0.70936416
6136 / 8650		0.60878001
10040 / 16492		0.69899810
8093 / 11578		0.76330913
5047 / 6612		0.67511013
613 / 908		0.68365998
82742 / 121028
ESP 0.69605
5986 / 8600		 0.59805
2635 / 4406		 0.66285
8621 / 13006
1KG
 0.66708
539 / 808		 0.59682
789 / 1322		 0.71032
716 / 1008		 0.58282
570 / 978		 0.66138
459 / 694		 0.72727
144 / 198		 0.64237
3217 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.69780
127 / 182
British
0.52459
64 / 122
African-American
0.76344
142 / 186
Chinese Dai
0.59884
103 / 172
Bengali
0.61702
116 / 188
Colombian
0.64019
137 / 214
Iberian
0.62500
120 / 192
African-Caribbean
0.75243
155 / 206
Han, Beijing
0.61165
126 / 206
Gujarati Indian
0.67188
86 / 128
Mexican, LA
0.66822
143 / 214
Toscani
0.55556
110 / 198
Esan, Nigeria
0.62500
130 / 208
Japanese
0.54902
112 / 204
Indian Telugu
0.71765
122 / 170
Peruvian
0.66667
132 / 198
Utah Europeans
0.57522
130 / 226
Gambian
0.68687
136 / 198
Kinh, Vietnam
0.54167
104 / 192
Punjabi, Lahore
0.64904
135 / 208
Puerto Rican
0.66667
132 / 198
Luhya, Kenya
0.72857
153 / 210
Southern Han
0.61275
125 / 204
Tamil
0.60000
102 / 170
Mende
0.60648
131 / 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



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.