CNOT1 : c.5896-5C>T

CNOT1 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.5896-5C>Tsubstitutionsplice site chr16:58566304 (reverse strand)0.28051911

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.28051911 (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
ExAC0.24637353
16339 / 66318		0.15271079
1583 / 10366		0.36873259
3177 / 8616		0.32875626
5387 / 16386		0.46804088
5404 / 11546		0.26188314
1730 / 6606		0.27704194
251 / 906		0.28051911
33871 / 120744
ESP 0.25535
2196 / 8600		 0.15173
667 / 4396		 0.22030
2863 / 12996
1KG
 0.23020
186 / 808		 0.13389
177 / 1322		 0.38492
388 / 1008		 0.33845
331 / 978		 0.41210
286 / 694		 0.26768
53 / 198		 0.28375
1421 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.26923
49 / 182
British
0.14754
18 / 122
African-American
0.48387
90 / 186
Chinese Dai
0.32558
56 / 172
Bengali
0.43617
82 / 188
Colombian
0.18224
39 / 214
Iberian
0.16146
31 / 192
African-Caribbean
0.37864
78 / 206
Han, Beijing
0.34466
71 / 206
Gujarati Indian
0.46875
60 / 128
Mexican, LA
0.22897
49 / 214
Toscani
0.12121
24 / 198
Esan, Nigeria
0.34615
72 / 208
Japanese
0.35294
72 / 204
Indian Telugu
0.52353
89 / 170
Peruvian
0.24747
49 / 198
Utah Europeans
0.11062
25 / 226
Gambian
0.35354
70 / 198
Kinh, Vietnam
0.31771
61 / 192
Punjabi, Lahore
0.26442
55 / 208
Puerto Rican
0.10606
21 / 198
Luhya, Kenya
0.37143
78 / 210
Southern Han
0.34804
71 / 204
Tamil
0.18824
32 / 170
Mende
0.12037
26 / 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 ENST00000317147 NM_016284.4
Protein ENSP00000320949 A5YKK6



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.