CNOT4 : c.847C>G

CNOT4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.847C>Gp.L283V (Leu > Val)substitutionmissense chr7:135082953 (reverse strand)0.07218542

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.07218542 (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
ExAC0.09783953
6485 / 66282		0.03909465
380 / 9720		0.00000000
0 / 8556		0.03843334
629 / 16366		0.04812554
552 / 11470		0.08318127
547 / 6576		0.06644144
59 / 888		0.07218542
8652 / 119858
ESP 0.09993
814 / 8146		 0.04104
148 / 3606		 0.08186
962 / 11752
1KG
 0.10396
84 / 808		 0.03177
42 / 1322		 0.00099
1 / 1008		 0.04397
43 / 978		 0.03458
24 / 694		 0.11111
22 / 198		 0.04313
216 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.08791
16 / 182
British
0.07377
9 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.01744
3 / 172
Bengali
0.02660
5 / 188
Colombian
0.07477
16 / 214
Iberian
0.04688
9 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.04854
10 / 206
Gujarati Indian
0.05469
7 / 128
Mexican, LA
0.09346
20 / 214
Toscani
0.02020
4 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.05882
12 / 204
Indian Telugu
0.01176
2 / 170
Peruvian
0.16162
32 / 198
Utah Europeans
0.02655
6 / 226
Gambian
0.00505
1 / 198
Kinh, Vietnam
0.05208
10 / 192
Punjabi, Lahore
0.04808
10 / 208
Puerto Rican
0.02525
5 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.03922
8 / 204
Tamil
0.01765
3 / 170
Mende
0.02778
6 / 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 ENST00000541284 NM_001190850.1
Protein ENSP00000445508 F8VQP3

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
deleterious polymorphism (auto) neutral 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.