CCT5 : c.1317+10C>A

CCT5 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1317+10C>Asubstitutionsplice site chr5:10262740 (forward strand)0.78943857

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.78943857 (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
ExAC0.85626948
57144 / 66736		0.44559785
4636 / 10404		0.86954010
7525 / 8654		0.66220472
10933 / 16510		0.79607877
9217 / 11578		0.85560931
5659 / 6614		0.80066079
727 / 908		0.78943857
95841 / 121404
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.84777
685 / 808		 0.38805
513 / 1322		 0.87897
886 / 1008		 0.65337
639 / 978		 0.77522
538 / 694		 0.87879
174 / 198		 0.68590
3435 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.85165
155 / 182
British
0.50820
62 / 122
African-American
0.82796
154 / 186
Chinese Dai
0.69186
119 / 172
Bengali
0.78191
147 / 188
Colombian
0.85047
182 / 214
Iberian
0.36458
70 / 192
African-Caribbean
0.89320
184 / 206
Han, Beijing
0.59709
123 / 206
Gujarati Indian
0.83594
107 / 128
Mexican, LA
0.86916
186 / 214
Toscani
0.34343
68 / 198
Esan, Nigeria
0.90865
189 / 208
Japanese
0.67157
137 / 204
Indian Telugu
0.71176
121 / 170
Peruvian
0.81818
162 / 198
Utah Europeans
0.46460
105 / 226
Gambian
0.89899
178 / 198
Kinh, Vietnam
0.63542
122 / 192
Punjabi, Lahore
0.78365
163 / 208
Puerto Rican
0.34848
69 / 198
Luhya, Kenya
0.86190
181 / 210
Southern Han
0.67647
138 / 204
Tamil
0.38235
65 / 170
Mende
0.34259
74 / 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 ENST00000280326 LRG_361t1NM_012073.3
Protein ENSP00000280326 LRG_361p1P48643



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.