CCT7 : c.267+6_267+7delAA

CCT7 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.267+6_267+7delAAdeletionsplice site chr2:73467677-73467678 (forward strand)0.35084245

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.35084245 (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
ExAC0.37186785
24042 / 64652		0.34142259
3264 / 9560		0.35167977
2952 / 8394		0.32087967
5136 / 16006		0.28895871
3219 / 11140		0.33363971
2178 / 6528		0.35649203
313 / 878		0.35084245
41104 / 117158
ESP 0.36851
2898 / 7864		 0.33713
1213 / 3598		 0.17024
4111 / 11462
1KG
 0.38614
312 / 808		 0.32678
432 / 1322		 0.37996
383 / 1008		 0.30061
294 / 978		 0.32421
225 / 694		 0.29798
59 / 198		 0.34046
1705 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.39560
72 / 182
British
0.34426
42 / 122
African-American
0.27419
51 / 186
Chinese Dai
0.25581
44 / 172
Bengali
0.39362
74 / 188
Colombian
0.40187
86 / 214
Iberian
0.31250
60 / 192
African-Caribbean
0.50485
104 / 206
Han, Beijing
0.31068
64 / 206
Gujarati Indian
0.31250
40 / 128
Mexican, LA
0.40187
86 / 214
Toscani
0.33333
66 / 198
Esan, Nigeria
0.38942
81 / 208
Japanese
0.28922
59 / 204
Indian Telugu
0.27647
47 / 170
Peruvian
0.34343
68 / 198
Utah Europeans
0.34956
79 / 226
Gambian
0.36869
73 / 198
Kinh, Vietnam
0.32812
63 / 192
Punjabi, Lahore
0.30769
64 / 208
Puerto Rican
0.29798
59 / 198
Luhya, Kenya
0.35238
74 / 210
Southern Han
0.31373
64 / 204
Tamil
0.30000
51 / 170
Mende
0.34722
75 / 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 ENST00000258091 NM_006429.3
Protein ENSP00000258091 Q99832



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.